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32 results on '"Ahmad-Annuar, A."'

1. Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study

Author

Rizig, Mie, primary, Bandres-Ciga, Sara, additional, Makarious, Mary B, additional, Ojo, Oluwadamilola Omolara, additional, Crea, Peter Wild, additional, Abiodun, Oladunni Victoria, additional, Levine, Kristin S, additional, Abubakar, Sani Atta, additional, Achoru, Charles Obiora, additional, Vitale, Dan, additional, Adeniji, Olaleye Akinmola, additional, Agabi, Osigwe Paul, additional, Koretsky, Mathew J, additional, Agulanna, Uchechi, additional, Hall, Deborah A, additional, Akinyemi, Rufus Olusola, additional, Xie, Tao, additional, Ali, Mohammed Wulgo, additional, Shamim, Ejaz A, additional, Ani-Osheku, Ifeyinwa, additional, Padmanaban, Mahesh, additional, Arigbodi, Ohwotemu Michael, additional, Standaert, David G, additional, Bello, Abiodun Hamzat, additional, Dean, Marissa N, additional, Erameh, Cyril Oshomah, additional, Elsayed, Inas, additional, Farombi, Temitope Hannah, additional, Okunoye, Olaitan, additional, Fawale, Michael Bimbola, additional, Billingsley, Kimberley J, additional, Imarhiagbe, Frank Aiwansoba, additional, Jerez, Pilar Alvarez, additional, Iwuozo, Emmanuel Uzodinma, additional, Baker, Breeana, additional, Komolafe, Morenikeji Adeyoyin, additional, Malik, Laksh, additional, Nwani, Paul Osemeke, additional, Daida, Kensuke, additional, Nwazor, Ernest Okwundu, additional, Miano-Burkhardt, Abigail, additional, Nyandaiti, Yakub Wilberforce, additional, Fang, Zih-Hua, additional, Obiabo, Yahaya Olugbo, additional, Kluss, Jillian H, additional, Odeniyi, Olanike Adedoyin, additional, Hernandez, Dena G, additional, Odiase, Francis Ehidiamen, additional, Tayebi, Nahid, additional, Ojini, Francis Ibe, additional, Sidranksy, Ellen, additional, Onwuegbuzie, Gerald Awele, additional, D'Souza, Andrea M, additional, Osaigbovo, Godwin Osawaru, additional, Berhe, Bahafta, additional, Osemwegie, Nosakhare, additional, Reed, Xylena, additional, Oshinaike, Olajumoke Olufemi, additional, Leonard, Hampton L, additional, Otubogun, Folajimi Morenikeji, additional, Alvarado, Chelsea X, additional, Oyakhire, Shyngle Imiewan, additional, Ozomma, Simon Izuchukwu, additional, Samuel, Sarah Chabiri, additional, Taiwo, Funmilola Tolulope, additional, Wahab, Kolawole Wasiu, additional, Zubair, Yusuf Agboola, additional, Iwaki, Hirotaka, additional, Kim, Jonggeol Jeffrey, additional, Morris, Huw R, additional, Hardy, John, additional, Nalls, Mike A, additional, Heilbron, Karl, additional, Norcliffe-Kaufmann, Lucy, additional, Blauwendraat, Cornelis, additional, Houlden, Henry, additional, Singleton, Andrew, additional, Okubadejo, Njideka Ulunma, additional, Okubadejo, Njideka, additional, Ojo, Oluwadamilola, additional, Abiodun, Oladunni, additional, Achoru, Charles, additional, Agabi, Osigwe, additional, Akinyemi, Rufus, additional, Ali, Mohammed, additional, Arigbodi, Ohwotemu, additional, Bello, Abiodun, additional, Erameh, Cyril, additional, Farombi, Temitope, additional, Fawale, Michael, additional, Imarhiagbe, Frank, additional, Iwuozo, Emmanuel, additional, Komolafe, Morenikeji, additional, Nwani, Paul, additional, Nwazor, Ernest, additional, Nyandaiti, Yakub, additional, Obiabo, Yahaya, additional, Odeniyi, Olanike, additional, Odiase, Francis, additional, Ojini, Francis, additional, Onwuegbuzie, Gerald, additional, Osaigbovo, Godwin, additional, Oshinaike, Olajumoke, additional, Otubogun, Folajimi, additional, Oyakhire, Shyngle, additional, Ozomma, Simon, additional, Samuel, Sarah, additional, Taiwo, Funmilola, additional, Wahab, Kolawole, additional, Zubair, Yusuf, additional, Gams Massi, Daniel, additional, Gueumekane Bila lamou, Eric, additional, Njamnshi Nfor, Leonard, additional, Magnerou, Mélanie Annick, additional, Fogang Fogoum, Yannick, additional, Shalash, Ali, additional, El-FawaI, Hassan, additional, Khedr, Eman, additional, Fawi, Gharib, additional, A. Eltantawi, Mohamed, additional, Salama, Mohamed, additional, El-Jaafary, Shaimaa, additional, Hamed, Sharifa, additional, Tafesse Mengesha, Abenet, additional, Alemayehu Ayele, Biniyam, additional, Melka Oda, Dereje, additional, Zenebe Zewde, Yared, additional, Debebe Gelan, Yohanesse, additional, AkpaIu, Albert, additional, Charway-Felli, Augustina, additional, Stephen Sarfo, Fred, additional, Adjei, Patrick, additional, Obese, Vida, additional, Bocoum, Abdoulaye, additional, Koita, Abdou, additional, Oumar Guinto, Cheick, additional, Coulibaly, Toumany, additional, Maiga, Youssoufa, additional, Kone, Zaynab, additional, Bell, Abiodun, additional, Adebowale, Akintunde A., additional, Akpekpe, John, additional, lyagba, Alagoma, additional, Wulgo, Ali Mohammed, additional, Arabambi, Babawale, additional, Agu, Christian, additional, Dike, Franklin, additional, Ishola, Ismail, additional, Abiodun, Kehinde, additional, Ekenze, Oluchi, additional, Agabi Osigwe, Paul, additional, Balarabe, Salisu, additional, Abubakar, Sani, additional, Williams, Uduak, additional, Fall, Maouly, additional, Mamadou Diop, Alassane, additional, Hilaire Dominique, Ewodo Touna, additional, Mochan, Andre, additional, Modi, Girish, additional, Dindayal, Saiesha, additional, Ali Awadelkareem, Eman, additional, Dahawi, Maha, additional, Awadelkareem, Mosab Ali, additional, Misbah, Sarah, additional, Mushengez, Brighton, additional, Kimambo, Henrika, additional, Msango, Leonard, additional, Adebayo, Philip, additional, OKeng, Kigocha, additional, Diekker, Marieke, additional, URassa, Sarah, additional, Gouider, Riadh, additional, Ben Djebara, Mouna, additional, Gargouri, Amina, additional, Kacem, Imen, additional, Nasri, Amina, additional, Mrabet, Saloua, additional, Sghaier, Ikram, additional, Mkada, Imen, additional, Atadzhanov, Masharip, additional, Chishimba, Lorraine, additional, Rizig, Mie, additional, Jama, Fatumah, additional, Nalls, Mike, additional, Shamim, Ejaz, additional, Jonas, Cabell, additional, Williamson, Jared, additional, Hall, Deborah A., additional, Rosenbaum, Marc, additional, Davis, Staci, additional, Dean, Marissa, additional, Cromer, Candace, additional, Smith, Jenna, additional, Ruffrage, Lauren, additional, Richardson, Joseph, additional, Sipma, Rebeka, additional, Padmanaban, Manesh, additional, Warren, Natalie, additional, Mercado, Tomas, additional, Disbrow, Elizabeth, additional, Chauppeta, Brian, additional, Thomas-Dean, Fermine, additional, Toms, Jamie, additional, Lofton, Katelyn, additional, Rawls, Ashley, additional, Rizer, Kyle, additional, Black, Nieci, additional, Solle, Justin, additional, O'Grady, Alyssa, additional, Sherer, Todd, additional, Fiske, Brian, additional, Başak, A. Nazlı, additional, Tan, Ai Huey, additional, Noyce, Alastair, additional, Akpalu, Albert, additional, Espay, Alberto, additional, Martínez-Carrasco, Alejandro, additional, Medina, Alex, additional, Zimprich, Alexander, additional, Brice, Alexis, additional, Karimova, Altynay, additional, Hernandez, Alvaro, additional, Illarionova, Anastasia, additional, Quattrone, Andrea, additional, Singleton, Andrew B, additional, Sobering, Andrew K., additional, Vinuela, Angel, additional, Sanyaolu, Arinola, additional, Schumacher-Schuh, Artur F., additional, Kishore, Asha, additional, Ahmad-Annuar, Azlina, additional, Al Mubarak, Bashayer, additional, Tang, Beisha, additional, Pizarro Galleguillos, Benjamin, additional, Jeon, Beomseok, additional, Siddiqi, Bernadette, additional, Casey, Bradford, additional, Mollenhauer, Brit, additional, Carroll, Camille, additional, Rieder, Carlos, additional, Pantazis, Caroline B., additional, Comart, Charisse, additional, Lin, Chin-Hsien, additional, Klein, Christine, additional, Bale, Claire, additional, Shepherd, Claire E, additional, Wegel, Claire, additional, Martinez-Ramirez, Daniel, additional, Hall, Deborah, additional, Hernandez, Dena, additional, KP, Divya, additional, Nguyen, Duan, additional, Fon, Edward A., additional, Dadiotis, Efthymios, additional, Riley, Ekemini, additional, Iakovenko, Elena, additional, Stafford, Ellie, additional, Gatto, Emilia M, additional, Valente, Enza Maria, additional, Vollstedt, Eva-Juliane, additional, Faghri, Faraz, additional, Genc, Gencer, additional, Xiromerisiou, Georgia, additional, Hadjigorgiou, Georgios, additional, Hiu-Fai Chan, Germaine, additional, Arboleda, Gonzalo, additional, Kaishibayeva, Gulnaz, additional, Höglinger, Günter, additional, Leonard, Hampton, additional, Madoev, Harutyun, additional, Chen, Honglei, additional, Wu, Hsiu-Chuan, additional, Shang, Huifang, additional, F. Mata, Ignacio, additional, Keller Sarmiento, Ignacio Juan, additional, Dagklis, Ioannis, additional, Tarnanas, Ioannis, additional, Aasly, Jan O., additional, Hoenicka, Janet, additional, Corvol, Jean-Christophe, additional, Foo, Jia Nee, additional, Guo, Jifeng, additional, Junker, Johanna, additional, Carr, Jonathan, additional, Kim, Jonggeol Jeff, additional, Orozco, Jorge, additional, Jankovic, Joseph, additional, Shulman, Joshua, additional, Hunter, Julie, additional, Solle, Justin C., additional, Murphy, Kaileigh, additional, Nuytemans, Karen, additional, Kieburtz, Karl, additional, Lohmann, Katja, additional, Marek, Kenneth, additional, Mok, Kin Ying, additional, Kumar, Kishore, additional, Levine, Kristin, additional, Chahine, Lana M., additional, Lange, Lara M., additional, Pihlstrøm, Lasse, additional, Screven, Laurel, additional, Stefanis, Leonidas, additional, Shulman, Lisa, additional, Marsili, Luca, additional, Parnetti, Lucilla, additional, Kuhl, Maggie, additional, Funayama, Manabu, additional, Sharma, Manu, additional, Tan, Manuela, additional, Kauffman, Marcelo, additional, Miranda, Marcelo, additional, Bustamante, Maria Leonor, additional, Stamelou, Maria, additional, Periñan Tocino, Maria Teresa, additional, Cornejo-Olivas, Mario, additional, Jimenez del Rio, Marlene, additional, Koretsky, Mathew, additional, Rodriguez-Violante, Mayela, additional, Ellis, Melina, additional, Avenali, Micol, additional, Rentería, Miguel E., additional, Inca-Martines, Miguel z, additional, Nalls, Mike A., additional, Ibrahim Norlinah, Mohamed, additional, Umair, Muhammad, additional, Ip, Nancy, additional, Louie, Naomi, additional, Cheung, Nelson Yuk-Fai, additional, Mencacci, Niccolò Emanuele, additional, Wood, Nicholas, additional, Williams, Nigel, additional, Hattori, Nobutaka, additional, Abdul Murad, Nor Azian, additional, Ibrahim, Norlinah Mohamed, additional, Monchi, Oury, additional, Öztop Çakmak, Özgür, additional, Öztop Çakmak, Patricio Öztop Çakmak, additional, Lewis, Patrick Alfryn, additional, Pastor, Pau, additional, Reyes-Pérez, Paula, additional, Saffie Awad, Paula, additional, Chana, Pedro, additional, Chan, Phillip, additional, Kung, Pin-Jui, additional, Chan, Piu, additional, Pal, Pramod, additional, Lingappa Kukkle, Prashanth, additional, Ojha, Rajeev, additional, Kaiyrzhanov, Rauan, additional, Krüger, Rejko, additional, Amouri, Rim, additional, Weil, Rimona, additional, Rajan, Roopa, additional, Alcalay, Roy, additional, Wu, Ruey-Meei, additional, Borgohain, Rupam, additional, Sassi, Samia Ben, additional, Khachatryan, Samson, additional, El-Sadig, Sarah, additional, Wu, Serena, additional, Groppa, Sergio, additional, Azmin, Shahrul, additional, Lim, Shen-Yang, additional, Ur-Rehman, Shoaib, additional, Ertan, Sibel, additional, Stott, Simon, additional, Jasaitye, Simona, additional, Chowdhury, Sohini, additional, Dumanis, Sonya, additional, Bardien, Soraya, additional, Lubbe, Steven, additional, Koks, Sulev, additional, Dey, Sumit, additional, Foroud, Tatiana, additional, Fon, Ted, additional, Beach, Thomas, additional, Gasser, Thomas, additional, Anderson, Tim, additional, Nguyen, Toan, additional, Schirinzi, Tommaso, additional, Shiraishi, Tomotaka, additional, Pitcher, Toni, additional, Tumas, Vitor, additional, Mohamed, Wael, additional, Kamel, Walaa A., additional, Luo, Wei, additional, Zhou, Xiaopu, additional, Zewde, Yared Z., additional, Song, Yeajin, additional, Wen, Yi, additional, Wu, Yihru, additional, Joong Kim, Yun, additional, and Tavadyan, Zaruhi, additional

Published
2023
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2. Genetic study of early-onset Parkinson's disease in the Malaysian population

Author

Tay, Yi Wen, primary, Tan, Ai Huey, additional, Lim, Jia Lun, additional, Lohmann, Katja, additional, Ibrahim, Khairul Azmi, additional, Abdul Aziz, Zariah, additional, Chin, Yen Theng, additional, Mawardi, Ahmad Shahir, additional, Lim, Thien Thien, additional, Looi, Irene, additional, Chia, Yuen Kang, additional, Ooi, Joshua Chin Ern, additional, Cheah, Wee Kooi, additional, Dy Closas, Alfand Marl F., additional, Lit, Lei Cheng, additional, Hor, Jia Wei, additional, Toh, Tzi Shin, additional, Muthusamy, Kalai Arasu, additional, Bauer, Peter, additional, Skrahin, Volha, additional, Rolfs, Arndt, additional, Klein, Christine, additional, Ahmad-Annuar, Azlina, additional, and Lim, Shen-Yang, additional

Published
2023
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3. New insights from a multi-ethnic Asian progressive supranuclear palsy cohort

Author

Lim, Shen-Yang, primary, Dy Closas, Alfand Marl F., additional, Tan, Ai Huey, additional, Lim, Jia Lun, additional, Tan, Yi Jayne, additional, Vijayanathan, Yuganthini, additional, Tay, Yi Wen, additional, Abdul Khalid, Raihanah binti, additional, Ng, Wai Keong, additional, Kanesalingam, Ruban, additional, Martinez-Martin, Pablo, additional, Ahmad Annuar, Azlina, additional, Lit, Lei Cheng, additional, Foo, Jia Nee, additional, Lim, Weng Khong, additional, Ng, Adeline Su Lyn, additional, and Tan, Eng-King, additional

Published
2023
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4. Genetic study of early-onset Parkinson's disease in the Malaysian population

Author

Yi Wen Tay, Ai Huey Tan, Jia Lun Lim, Katja Lohmann, Khairul Azmi Ibrahim, Zariah Abdul Aziz, Yen Theng Chin, Ahmad Shahir Mawardi, Thien Thien Lim, Irene Looi, Yuen Kang Chia, Joshua Chin Ern Ooi, Wee Kooi Cheah, Alfand Marl F. Dy Closas, Lei Cheng Lit, Jia Wei Hor, Tzi Shin Toh, Kalai Arasu Muthusamy, Peter Bauer, Volha Skrahin, Arndt Rolfs, Christine Klein, Azlina Ahmad-Annuar, and Shen-Yang Lim

Subjects
Neurology, Neurology (clinical), Geriatrics and Gerontology
Published
2023

5. Hereditary transthyretin amyloidosis in multi-ethnic Malaysians

Author

Nor Ashikin Md Sari, Rachel Siew-Hung Sim, Cheng-Yin Tan, Khean Jin Goh, Kum Thong Wong, Azlina Ahmad-Annuar, Soon Chai Low, Wan-Chung Law, Nortina Shahrizaila, and Kon-Ping Lin

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, Ethnic group, Asymptomatic, 03 medical and health sciences, 0302 clinical medicine, Asian People, Internal medicine, Ethnicity, Humans, Medicine, Sensory symptoms, Genetics (clinical), Aged, Subclinical infection, Malay, Neurologic Examination, Amyloid Neuropathies, Familial, biology, business.industry, Amyloidosis, Malaysia, Middle Aged, medicine.disease, language.human_language, Transthyretin, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, language, Female, Neurology (clinical), medicine.symptom, business, Asymptomatic carrier, 030217 neurology & neurosurgery
Abstract

We report the clinical and genetic characteristics of hereditary transthyretin amyloidosis in the multi-ethnic Malaysian population. Subjects with genetically confirmed transthyretin amyloidosis seen between 2001 till August 2020 were included. There were 30 patients and 14 asymptomatic carriers, of which 26 (59.1%) were men. The majority (86.7%) were ethnic Chinese while two (6.7%) each were Malay and Sri Lankan Tamil ethnicity respectively. Among patients, mean age of symptom-onset was 55.9 ± 9.8 years with mean duration from symptom-onset to diagnosis of 3.2 ± 2.5 years. Common presenting symptoms were sensory symptoms of upper limbs (43.3%), symmetric sensory symptoms of both lower limbs (16.7%) and autonomic symptoms (16.7%). Nerve conduction studies showed sensorimotor polyneuropathy in 25 (83.3%) patients (22, axonal). Abnormal echocardiograms were seen in 24 (80%) patients, although 15 were asymptomatic. Of six different TTR mutations found, Ala97Ser was the commonest, and found exclusively in 84.6% of Chinese patients. Other mutations among Chinese patients were Val30Met, Ala25Thr and Asp39Val. Our Malay and Tamil patients had Glu54Lys and Gly47Val mutations respectively. In conclusion, TTR Ala97Ser is the commonest mutation among ethnic Chinese Malaysians which presented with late-onset progressive sensorimotor polyneuropathy, autonomic dysfunction and subclinical cardiac involvement.

Published
2021

6. New insights from a multi-ethnic Asian progressive supranuclear palsy cohort

Author

Shen-Yang Lim, Alfand Marl F. Dy Closas, Ai Huey Tan, Jia Lun Lim, Yi Jayne Tan, Yuganthini Vijayanathan, Yi Wen Tay, Raihanah binti Abdul Khalid, Wai Keong Ng, Ruban Kanesalingam, Pablo Martinez-Martin, Azlina Ahmad Annuar, Lei Cheng Lit, Jia Nee Foo, Weng Khong Lim, Adeline Su Lyn Ng, and Eng-King Tan

Subjects
Neurology, Neurology (clinical), Geriatrics and Gerontology
Published
2023

7. PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases

Author

Ahmad Shahir Mawardi, Santhi Datuk Puvanarajah, Ai Huey Tan, Christine Klein, Yen Theng Chin, Khairul Azmi, Jia Lun Lim, Shen-Yang Lim, Zariah Abdul Aziz, Norlisah Ramli, Katja Lohmann, Azlina Ahmad-Annuar, Yi Wen Tay, Peter Bauer, and Arndt Rolfs

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, Population, Disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Epidemiology, Prevalence, Humans, Medicine, education, Malay, Mutation, education.field_of_study, business.industry, Point mutation, Malaysia, Parkinson Disease, Middle Aged, language.human_language, 030104 developmental biology, Neurology, Cohort, Etiology, language, Female, Neurology (clinical), Geriatrics and Gerontology, business, Protein Kinases, 030217 neurology & neurosurgery
Abstract

Background An improved understanding of the genetic determinants of Parkinson's disease (PD) in underrepresented populations, and better characterization of genotype-phenotype correlations in monogenic PD, are needed. Scarce literature exists regarding the genetic aetiology of PD in Malays, who comprise 200 million individuals in South-East Asia. Phenotypic data regarding PARK-PINK1 are also limited. Methods A multi-ethnic cohort of PD patients from Malaysia (n = 499, including 185 Malays) were tested using a next-generation sequencing-based PD gene panel. The prevalence and clinico-radiological features of patients with the PINK1 p. Leu347Pro mutation are described. This mutation has previously only been reported in people of Filipino or Chamorro (native Guamanian) ancestry. Results Homozygous p. Leu347Pro mutations were found in five unrelated Malay patients, yielding a prevalence of 6.9% among Malays with PD onset ≤50 years (2.7% of the Malay group overall). This variant was not detected in the homozygous state in 300 Malay controls, but two were heterozygous carriers (0.67%) indicating a relatively high population frequency in keeping with the high frequency of PARK-PINK1 among Malay patients. Interesting clinical features were observed, e.g., differences in the age at PD onset and clinical progression, despite having the same point mutations. Previously unreported brain MRI abnormalities involving the corticospinal tract and hypothalamus, and “loss of the swallow tail” sign, were documented. Conclusions This report contributes to the very limited literature on PD genetics in the Malay population, and more broadly to the epidemiological, phenotypic and neuroimaging characterization of PARK-PINK1. It also further supports the pathogenicity of the p. Leu347Pro variant.

Published
2020

11. Molecular testing for advanced non-small cell lung cancer in Malaysia: Consensus statement from the College of Pathologists, Academy of Medicine Malaysia, the Malaysian Thoracic Society, and the Malaysian Oncological Society

Author

Norhayati Omar, Nurhayati Mohd Marzuki, Lye Mun Tho, Pathmanathan Rajadurai, Yong Kek Pang, Phaik-Leng Cheah, Soon Hin How, Noriah Othman, Muhammad Azrif Ahmad Annuar, Chong-Kin Liam, and Ros Suzanna Ahmad Bustamam

Subjects
Male, 0301 basic medicine, Pulmonary and Respiratory Medicine, Cancer Research, medicine.medical_specialty, Lung Neoplasms, Statement (logic), Biopsy, First line, medicine.medical_treatment, Targeted therapy, 03 medical and health sciences, 0302 clinical medicine, First line therapy, Carcinoma, Non-Small-Cell Lung, Biomarkers, Tumor, Humans, Medicine, Genetic Predisposition to Disease, Medical physics, Lung cancer, Neoplasm Staging, business.industry, Disease progression, Malaysia, High-Throughput Nucleotide Sequencing, medicine.disease, 030104 developmental biology, Molecular Diagnostic Techniques, Oncology, 030220 oncology & carcinogenesis, Treatment strategy, Female, Non small cell, business, Genome-Wide Association Study
Abstract

In the recent years, increased understanding of the molecular profiles of non-small cell lung cancer (NSCLC) has allowed for targeted treatment of actionable genetic mutations. The management of NSCLC now requires multiple molecular tests to guide the treatment strategy. In the light of this, there is a need to establish a molecular testing consensus statement for advanced NSCLC patients in Malaysia. This Malaysian consensus statement was developed by a panel of experts, chaired by a pathologist and composed of three other pathologists, four respiratory physicians and three oncologists. It reflects currently available scientific data and adaptations of recommendations from international guidelines to the local landscape. Expert recommendations on different aspects of molecular testing agreed upon by the panel are provided as structured discussions. These recommendations address the appropriate patients and samples to be tested, as well as when and how these tests should be performed. The algorithms for molecular testing in metastatic NSCLC, in the first line setting and upon disease progression beyond first line therapy, were developed.

Published
2019

12. Parkinson's disease in the Western Pacific Region

Author

Nobutaka Hattori, Huifang Shang, Louis C.S. Tan, Roongroj Bhidayasiri, Chong Tin Tan, Azlina Ahmad-Annuar, Pramod Kumar Pal, Yih Ru Wu, Anthony E. Lang, Raymond L. Rosales, Eng-King Tan, Ai Huey Tan, Beomseok Jeon, Shen-Yang Lim, Christine Klein, and Andrew Evans

Subjects
0301 basic medicine, Asia, Deep brain stimulation, Parkinson's disease, medicine.medical_treatment, Oceania, Ethnic group, Disease, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Prevalence, medicine, Humans, Restless legs syndrome, Clinical governance, business.industry, Incidence, Parkinson Disease, medicine.disease, LRRK2, 030104 developmental biology, Neurology (clinical), business, 030217 neurology & neurosurgery, Demography
Abstract

1·8 billion people of diverse ethnicities and cultures live in the Western Pacific Region. The increasing longevity of populations in this region is a major contributor to the exponential increase in Parkinson's disease prevalence worldwide. Differences exist between Parkinson's disease in the Western Pacific Region and in Europe and North America that might provide important insights into our understanding of the disease and approaches to management. For example, some genetic factors (such as LRRK2 mutations or variants) differ, environmental exposures might play differential roles in modulating the risk of Parkinson's disease, and fewer dyskinesias are reported, with some differences in the profile of non-motor symptoms and comorbidities. Gaps in awareness of the disease and inequitable access to treatments pose challenges. Further improvements in infrastructure, clinical governance, and services, and concerted collaborative efforts in training and research, including greater representation of the Western Pacific Region in clinical trials, will improve care of patients with Parkinson's disease in this region and beyond.

Published
2019

13. Hereditary transthyretin amyloidosis in multi-ethnic Malaysians

Author

Low, Soon-Chai, primary, Md Sari, Nor Ashikin, additional, Tan, Cheng-Yin, additional, Ahmad-Annuar, Azlina, additional, Wong, Kum-Thong, additional, Law, Wan-Chung, additional, Sim, Rachel Siew-Hung, additional, Lin, Kon-Ping, additional, Shahrizaila, Nortina, additional, and Goh, Khean-Jin, additional

Published
2021
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14. Association of Allelic Interaction of Single Nucleotide Polymorphisms of Influx and Efflux Transporters Genes With Nonhematologic Adverse Events of Docetaxel in Breast Cancer Patients

Author

Rafid Salim Jabir, Gwo Fuang Ho, Muhammad Azrif Bin Ahmad Annuar, and Johnson Stanslas

Subjects
Adult, Oncology, Cancer Research, medicine.medical_specialty, ATP Binding Cassette Transporter, Subfamily B, Drug-Related Side Effects and Adverse Reactions, Antineoplastic Agents, Breast Neoplasms, Single-nucleotide polymorphism, Docetaxel, Polymorphism, Single Nucleotide, 030226 pharmacology & pharmacy, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, Genotype, Mucositis, Humans, Medicine, Prospective Studies, Adverse effect, Aged, business.industry, Common Terminology Criteria for Adverse Events, Middle Aged, medicine.disease, Multidrug Resistance-Associated Protein 2, 030220 oncology & carcinogenesis, Female, Multidrug Resistance-Associated Proteins, business, Pharmacogenetics, medicine.drug
Abstract

Nonhematologic adverse events (AEs) of docetaxel constitute an extra burden in the treatment of cancer patients and necessitate either a dose reduction or an outright switch of docetaxel for other regimens. These AEs are frequently associated with genetic polymorphisms of genes encoding for proteins involved docetaxel disposition. Therefore, we investigated that association in Malaysian breast cancer patients.A total of 110 Malaysian breast cancer patients were enrolled in the present study, and their blood samples were investigated for different single nucleotide polymorphisms using polymerase chain reaction restriction fragment length polymorphism. AEs were evaluated using the Common Terminology Criteria for Adverse Events, version 4.0.Fatigue, nausea, oral mucositis, and vomiting were the most common nonhematologic AEs. Rash was associated with heterozygous and mutant genotypes of ABCB1 3435CT (P .05). Moreover, patients carrying the GG genotype of ABCB1 2677GA/T reported more fatigue than those carrying the heterozygous genotype GA (P .05). The presence of ABCB1 3435-T, ABCC2 3972-C, ABCC2 1249-G, and ABCB1 2677-G alleles was significantly associated with nausea and oral mucositis. The coexistence of ABCB1 3435-C, ABCC2 3972-C, ABCC2 1249-G, and ABCB1 2677-A was significantly associated with vomiting (P .05).The prevalence of nonhematologic AEs in breast cancer patients treated with docetaxel has been relatively high. The variant allele of ABCB1 3435CT polymorphism could be a potential predictive biomarker of docetaxel-induced rash, and homozygous wild-type ABCB1 2677GA/T might predict for a greater risk of fatigue. In addition, the concurrent presence of specific alleles could be predictive of vomiting, nausea, and oral mucositis.

Published
2018

15. P-MD010. Early-onset parkinson’s disease in malaysian malays

Author

Ai Huey Tan, Shen-Yang Lim, Khairul Azmi Ibrahim, Azlina Ahmad Annuar, Zariah Abdul Aziz, Yen Theng Chin, and Jia Lun Lim

Subjects
medicine.medical_specialty, Pediatrics, business.industry, Early onset Parkinson's disease, Extended family, Sensory Systems, language.human_language, Disease causation, Neurology, Physiology (medical), Epidemiology, language, Etiology, Medicine, Neurology (clinical), Family history, Medical diagnosis, business, Malay
Abstract

Introduction. Although PD most commonly affects older individuals, it is not rare for people to be diagnosed in their 40 or 50s, in whom genetic factors presumably contribute a greater role in aetiology. To date, literature regarding epidemiology and genetics of PD in Malays remains very scarce. Methods. We analysed data from the PD registry of a tertiary hospital in East Peninsular Malaysia, collected over 2011–2019. Diagnosis of PD was assigned by neurologists using clinical diagnostic criteria. Patients with revised diagnoses during follow-up were removed from the registry. EOPD was defined using two age cut-offs: age of diagnosis 40 years and 50 years. Positive family history was defined as having at least one member in the immediate or extended family diagnosed with PD or having motor features that could be consistent with PD. Results. Two hundred and thirty-one Malay patients were included in this study. The frequency of EOPD was 4.32% (10/231) using the 40-years cut-off and 16.9% (39/231) using 50-years. Of 136 patients in whom family history information was available, 25 (18.4%) had a positive family history. Interestingly, none of those with PD diagnosis 40 years had a positive family history, while (4/31) 12.9% of those diagnosed at 50 years had a positive family history. Conclusion. This pilot study revealed a relatively high frequency of EOPD in Malays. Further studies to elucidate the role of genetics as well as environmental factors among Malay PD patients may potentially unravel new insights into disease causation.

Published
2021

16. P-PN022. Transthyretin familial amyloid polyneuropathy in multi-ethnic Malaysians

Author

Goh Khean Jin, Wong Kum Thong, Low Soon Chai, Azlina Ahmad Annuar, Tan Cheng Yin, Nor Ashikin Md Sari, Lin Kon-Ping, and Nortina Shahrizaila

Subjects
medicine.medical_specialty, Weakness, Nerve biopsy, biology, medicine.diagnostic_test, business.industry, Electromyography, medicine.disease, Sensory Systems, Familial amyloid cardiomyopathy, Transthyretin, Peripheral neuropathy, Neurology, Physiology (medical), Internal medicine, Mutation (genetic algorithm), biology.protein, Medicine, Neurology (clinical), medicine.symptom, Family history, business
Abstract

Introduction. Familial amyloid polyneuropathy (FAP) is a rare autosomal dominant peripheral neuropathy. We report a case series of Malaysian FAP patients. Methods. Patients with definite (genetically confirmed) FAP seen at the University of Malaya Medical Centre between 2008 till 2019 were included in the series. The patients’ demographic and clinical features and investigations including nerve conduction studies and electromyography (NCS/EMG), echocardiography, sural nerve biopsy and hATTR mutation are reported. Results. A total 21 index cases were seen. Nineteen (90%) were ethnic Chinese, one ethnic (5%) Malay and one (5%) ethnic Indian; Fourteen (67%) were men. Mean age of onset of symptoms was 56.1 ± 10.5 years (range: 31-73). Nineteen (90%) patients presented with numbness and weakness of the limbs while two had postural hypotension. Fifteen (71%) patients had positive family history. NCS/EMG showed sensorimotor polyneuropathy in 19 (90%) patients; fifteen (71%) showing axonal neuropathy. Amyloid deposits were seen on nerve biopsy in ten patients and rectal, leptomeningeal and endomyocardial biopsies in 1 patient respectively. The latter was diagnosed as familial amyloid cardiomyopathy (FAC). Sixteen patients (76%) had abnormal cardiac echocardiogram with amyloid deposits. Fifteen Chinese patients (71%) carried the Ala97Ser hATTR mutation while the FAC patient has Asp39Val mutation. Our Malay patient had Glu54Lys mutation and Indian patient had Gly67Val mutation. Two patients carried Val30Met mutation. Autonomic function test was abnormal in all 7 patients in whom they were carried out. Conclusion. FAP in Malaysians is seen mainly among ethnic Chinese, in whom Ala97Ser may be a common mutation. This is also the reported “hotspot” mutation for FAP reported in Taiwan but not in China. Similar to Taiwan, Chinese-Malaysians are descended from immigrants from Southern China. Similar to Taiwanese patients, our FAP patients with Ala97Ser mutation, present with late-onset progressive sensorimotor polyneuropathy and cardiac involvement was common.

Published
2021

17. PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative cases

Author

Tan, Ai Huey, primary, Lohmann, Katja, additional, Tay, Yi Wen, additional, Lim, Jia Lun, additional, Ahmad-Annuar, Azlina, additional, Ramli, Norlisah, additional, Chin, Yen Theng, additional, Mawardi, Ahmad Shahir, additional, Azmi, Khairul, additional, Aziz, Zariah Abdul, additional, Puvanarajah, Santhi Datuk, additional, Bauer, Peter, additional, Klein, Christine, additional, Rolfs, Arndt, additional, and Lim, Shen-Yang, additional

Published
2020
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18. Parkinson's disease in the Western Pacific Region

Author

Lim, Shen-Yang, primary, Tan, Ai Huey, additional, Ahmad-Annuar, Azlina, additional, Klein, Christine, additional, Tan, Louis C S, additional, Rosales, Raymond L, additional, Bhidayasiri, Roongroj, additional, Wu, Yih-Ru, additional, Shang, Hui-Fang, additional, Evans, Andrew H, additional, Pal, Pramod K, additional, Hattori, Nobutaka, additional, Tan, Chong Tin, additional, Jeon, Beomseok, additional, Tan, Eng-King, additional, and Lang, Anthony E, additional

Published
2019
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19. Evaluation of novel Parkinson's disease candidate genes in the Chinese population

Author

Wing Lok Au, Anne Y.Y. Chan, Jia Nee Foo, Elaine G.Y. Chew, Jianjun Liu, Azlina Ahmad Annuar, Eng-King Tan, Vincent Mok, Shen-Yang Lim, Sun Ju Chung, Kumar M. Prakash, Louis C.S. Tan, Kyuyoung Song, Herty Liany, and Lee Kong Chian School of Medicine (LKCMedicine)

Subjects
CD36 Antigens, Risk, 0301 basic medicine, Nonsynonymous substitution, Heterozygote, Aging, Candidate gene, Population, Disease, Biology, Compound heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Asian People, Loss of Function Mutation, Genetics, Humans, Genetic Predisposition to Disease, Biological sciences::Genetics [Science], education, Gene, Genotyping, Genetic Association Studies, education.field_of_study, Parkinson's Disease, General Neuroscience, Parkinson Disease, Heterozygote advantage, 030104 developmental biology, Neurology (clinical), Geriatrics and Gerontology, 030217 neurology & neurosurgery, Developmental Biology
Abstract

Recent whole-exome sequencing studies in European patients with Parkinson's disease (PD) have identified potential risk variants across 33 novel PD candidate genes. We aim to determine if these reported candidate genes are similarly implicated in Asians by assessing common, rare, and novel nonsynonymous coding variants by sequencing all 33 genes in 198 Chinese samples and genotyping coding variants in an independent set of 9756 Chinese samples. We carried out further targeted sequencing of CD36 in an additional 576 Chinese and Korean samples. We found that only 8 of 43 reported risk variants were polymorphic in our Chinese samples. We identified several heterozygotes for rare loss-of-function mutations, including the reported CD36 p.Gln74Ter variant, in both cases and controls. We also observed 2 potential compound heterozygotes among PD cases for rare loss-of-function mutations in CD36 and SSPO. The other reported variants were common in East Asians and not associated with PD, completely absent, or only found in controls. Therefore, the 33 reported candidate genes and associated variants are unlikely to confer significant PD risk in the East Asian population. NRF (Natl Research Foundation, S’pore) ASTAR (Agency for Sci., Tech. and Research, S’pore) NMRC (Natl Medical Research Council, S’pore) Accepted version

Published
2019

22. Glucocerebrocidase gene variants in Malays with Parkinson’s disease

Author

N.A. Abdul Murad, N.F. Mohamad Pakarul Razy, Rahima Jamal, A. Ahmad Annuar, Saiful Effendi Syafruddin, N. Mohamed Ibrahim, and Shen-Yang Lim

Subjects
Genetics, Parkinson's disease, Neurology, business.industry, Medicine, Neurology (clinical), Geriatrics and Gerontology, business, medicine.disease, Gene
Published
2018

24. Mouse models for neurological disease

Author

Majid Hafezparast, Azlina Ahmad-Annuar, Elizabeth M. C. Fisher, Nicholas W. Wood, and Sarah J. Tabrizi

Subjects
medicine.medical_specialty, Disease, Biology, Genome, Disease Models, Animal, Mice, Molecular genetics, Human biology, medicine, Motor neuron degeneration, Animals, Humans, Neurology (clinical), Nervous System Diseases, Gene, Neuroscience
Abstract

The mouse has many advantages over human beings for the study of genetics, including the unique property that genetic manipulation can be routinely carried out in the mouse genome. Most importantly, mice and human beings share the same mammalian genes, have many similar biochemical pathways, and have the same diseases. In the minority of cases where these features do not apply, we can still often gain new insights into mouse and human biology. In addition to existing mouse models, several major programmes have been set up to generate new mouse models of disease. Alongside these efforts are new initiatives for the clinical, behavioural, and physiological testing of mice. Molecular genetics has had a major influence on our understanding of the causes of neurological disorders in human beings, and much of this has come from work in mice.

Published
2002

25. G.P.139

Author

T. Ambang, Joo-San Tan, Khean Jin Goh, Azlina Ahmad-Annuar, and Kum Thong Wong

Subjects
Pediatrics, medicine.medical_specialty, Weakness, business.industry, Muscle weakness, Congenital myasthenic syndrome, medicine.disease, Compound heterozygosity, Choline acetyltransferase, Endocrinology, Neurology, Pyridostigmine, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Repetitive nerve stimulation, Sibling, medicine.symptom, business, Genetics (clinical), medicine.drug
Abstract

Pathogenic mutations of the choline acetyltransferase (ChAT) gene alters its function and causes reduced synthesis of acetylcholine and its depletion in synaptic vesicles. This results in a rare presynaptic form of congenital myasthenic syndrome which presents at birth or in infancy characterised by apnoeic attacks. We present Kadazandusun family, an ethnic group native to Sabah, in north Borneo, with ChAT deficiency in which 5 of 6 siblings of non-consanguineous parents were affected. 2 died in their infancy from apnoeic atatacks while another sibling died at the age of 12 years from a severe apnoeic episode after an intercurrent infection. We reviewed 2 brothers, the eldest and the 4th at 24 and 18 years of age respectively, although both had presented in infancy with bilateral ptosis and limb weakness. The elder brother had episodes of apnoea and weakness on exposure to cold well water in their village. A congenital myasthenic syndrome was suspected and both brothers were treated on pyridostigmine after positive Tensilon tests and negative acetylcholine receptor antibody tests. On review, both had muscle weakness after moderate to severe exertion and repetitive nerve stimulation test of the abductor digiti minimi, which was normal at rest, showed sustained decremental response after prolonged 5 min stimulation at 10 Hz. Screening of the ChAT gene showed compound heterozygous mutation in both brothers, c.1069G>C and c.2263_2265delTCT in exons 6 and 15 respectively. Each parent was heterozygous for one of the mutations, which were not seen in any of 50 normal controls obtained from the native population of Sabah. In summary, we present a Kadazandusun family with ChAT deficiency congenital myasthenic syndrome, in which, 3 affected siblings died from apnoeic episodes, while another 2 survived to adulthood. This variable severity could be attributed to treatment with pyridostigmine as well as recognised improvement with age in this condition.

Published
2014

26. G.P.139

Author

Tan, J.S., primary, Ambang, T., additional, Ahmad-Annuar, A., additional, Wong, K.T., additional, and Goh, K.J., additional

Published
2014
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27. P1.31 Genetic mutations in sarcoglycanopathies in a Malaysian population

Author

R.Y. Looi, T. Thomas, Nortina Shahrizaila, M.K. Thong, Kum Thong Wong, Azlina Ahmad-Annuar, T.B. Khoo, and Khean Jin Goh

Subjects
Genetics, Neurology, Malaysian population, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Genetics (clinical), Sarcoglycanopathies
Published
2010

30. P1.21 Genetic mutations in dysferlinopathy in a Malaysian population

Author

Azlina Ahmad-Annuar, Nortina Shahrizaila, M.K. Thong, Kum Thong Wong, Khean Jin Goh, and R.Y. Looi

Subjects
Genetics, Dysferlinopathy, Neurology, Malaysian population, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Biology, medicine.disease, Genetics (clinical)
Published
2010

32. An integrated genetic, radiation hybrid, physical and transcription map of a region of distal mouse chromosome 12, including an imprinted locus and the ‘Legs at odd angles’ ( Loa ) mutation

Author

Witherden, Abi S, primary, Hafezparast, Majid, additional, Nicholson, Sharon J, additional, Ahmad-Annuar, Azlina, additional, Bermingham, Nessan, additional, Arac, Demet, additional, Rankin, Joanna, additional, Iravani, Marjan, additional, Ball, Simon, additional, Peters, Jo, additional, Martin, Joanne E, additional, Huntley, Derek, additional, Hummerich, Holger, additional, Sergot, Marek, additional, and Fisher, Elizabeth M.C, additional

Published
2002
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