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163. Preface

Author

Bhatia, Kailash P., primary, Chaudhuri, K. Ray, additional, and Stamelou, Maria, additional

Published
2017
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164. Longitudinal Synaptic Loss in Primary Tauopathies: An In Vivo [11C]UCB‐J Positron Emission Tomography Study.

Author

Holland, Negin, Jones, P. Simon, Savulich, George, Naessens, Michelle, Malpetti, Maura, Whiteside, David J., Street, Duncan, Swann, Peter, Hong, Young T., Fryer, Tim D., Rittman, Timothy, Mulroy, Eoin, Aigbirhio, Franklin I., Bhatia, Kailash P., O'Brien, John T., and Rowe, James B.

Abstract

Background: Synaptic loss is characteristic of many neurodegenerative diseases; it occurs early and is strongly related to functional deficits. Objective: In this longitudinal observational study, we determine the rate at which synaptic density is reduced in the primary tauopathies of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD), and we test the relationship with disease progression. Methods: Our cross‐sectional cohort included 32 participants with probable PSP and 16 with probable CBD (all amyloid‐negative corticobasal syndrome), recruited from tertiary care centers in the United Kingdom, and 33 sex‐ and age‐matched healthy control subjects. Synaptic density was estimated by positron emission tomography imaging with the radioligand [11C]UCB‐J that binds synaptic vesicle 2A. Clinical severity and cognition were assessed by the PSP Rating Scale and the Addenbrooke's cognitive examination. Regional [11C]UCB‐J nondisplaceable binding potential was estimated in Hammersmith Atlas regions of interest. Twenty‐two participants with PSP/CBD had a follow‐up [11C]UCB‐J positron emission tomography scan after 1 year. We calculated the annualized change in [11C]UCB‐J nondisplaceable binding potential and correlated this with the change in clinical severity. Results: We found significant annual synaptic loss within the frontal lobe (−3.5%, P = 0.03) and the right caudate (−3.9%, P = 0.046). The degree of longitudinal synaptic loss within the frontal lobe correlated with the rate of change in the PSP Rating Scale (R = 0.47, P = 0.03) and cognition (Addenbrooke's Cognitive Examination–Revised, R = −0.62, P = 0.003). Conclusions: We provide in vivo evidence for rapid progressive synaptic loss, correlating with clinical progression in primary tauopathies. Synaptic loss may be an important therapeutic target and outcome variable for early‐phase clinical trials of disease‐modifying treatments. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2023
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165. Author Correction: Dystonia

Author

Balint, Bettina, Mencacci, Niccolò E., Valente, Enza Maria, Pisani, Antonio, Rothwell, John, Jankovic, Joseph, Vidailhet, Marie, and Bhatia, Kailash P.

Published
2018
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166. Dystonia

Author

Balint, Bettina, Mencacci, Niccolò E., Valente, Enza Maria, Pisani, Antonio, Rothwell, John, Jankovic, Joseph, Vidailhet, Marie, and Bhatia, Kailash P.

Published
2018
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169. Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous NonsenseHPCAVariant: Case Series and Literature Review

Author

Magrinelli, Francesca, primary, Bhatia, Kailash P., additional, Beiraghi Toosi, Mehran, additional, Arab, Fatemeh, additional, Karimiani, Ehsan Ghayoor, additional, Sedighzadeh, Sahar, additional, Ansari, Behnaz, additional, Neshatdoust, Maedeh, additional, Rocca, Clarissa, additional, Houlden, Henry, additional, and Maroofian, Reza, additional

Published
2022
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171. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Author

Christensen, Maria B., Levy, Amanda M., Mohammadi, Nazanin A., Niceta, Marcello, Kaiyrzhanov, Rauan, Dentici, Maria Lisa, Al Alam, Chadi, Alesi, Viola, Benoit, Valérie, Bhatia, Kailash P., Bierhals, Tatjana, Boßelmann, Christian M., Buratti, Julien, Callewaert, Bert, Ceulemans, Berten, Charles, Perrine, De Wachter, Matthias, Dehghani, Mohammadreza, D'haenens, Erika, Doco-Fenzy, Martine, Geßner, Michaela, Gobert, Cyrielle, Guliyeva, Ulviyya, Haack, Tobias B., Hammer, Trine B., Heinrich, Tilman, Hempel, Maja, Herget, Theresia, Hoffmann, Ute, Horvath, Judit, Houlden, Henry, Keren, Boris, Kresge, Christina, Kumps, Candy, Lederer, Damien, Lermine, Alban, Magrinelli, Francesca, Maroofian, Reza, Vahidi Mehrjardi, Mohammad Yahya, Moudi, Mahdiyeh, Müller, Amelie J., Oostra, Anna J., Pletcher, Beth A., Ros-Pardo, David, Samarasekera, Shanika, Tartaglia, Marco, Van Schil, Kristof, Vogt, Julie, Wassmer, Evangeline, Winkelmann, Juliane, Zaki, Maha S., Zech, Michael, Lerche, Holger, Radio, Francesca Clementina, Gomez-Puertas, Paulino, Møller, Rikke S., Tümer, Zeynep, Christensen, Maria B., Levy, Amanda M., Mohammadi, Nazanin A., Niceta, Marcello, Kaiyrzhanov, Rauan, Dentici, Maria Lisa, Al Alam, Chadi, Alesi, Viola, Benoit, Valérie, Bhatia, Kailash P., Bierhals, Tatjana, Boßelmann, Christian M., Buratti, Julien, Callewaert, Bert, Ceulemans, Berten, Charles, Perrine, De Wachter, Matthias, Dehghani, Mohammadreza, D'haenens, Erika, Doco-Fenzy, Martine, Geßner, Michaela, Gobert, Cyrielle, Guliyeva, Ulviyya, Haack, Tobias B., Hammer, Trine B., Heinrich, Tilman, Hempel, Maja, Herget, Theresia, Hoffmann, Ute, Horvath, Judit, Houlden, Henry, Keren, Boris, Kresge, Christina, Kumps, Candy, Lederer, Damien, Lermine, Alban, Magrinelli, Francesca, Maroofian, Reza, Vahidi Mehrjardi, Mohammad Yahya, Moudi, Mahdiyeh, Müller, Amelie J., Oostra, Anna J., Pletcher, Beth A., Ros-Pardo, David, Samarasekera, Shanika, Tartaglia, Marco, Van Schil, Kristof, Vogt, Julie, Wassmer, Evangeline, Winkelmann, Juliane, Zaki, Maha S., Zech, Michael, Lerche, Holger, Radio, Francesca Clementina, Gomez-Puertas, Paulino, Møller, Rikke S., and Tümer, Zeynep

Abstract

Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, we obtained phenotype and genotype information of 26 further individuals from 16 families. Among the 27 different ZNF142 variants identified in the total of 35 individuals only four were missense. Missense variants may give a milder phenotype by changing the local structure of ZF motifs as suggested by protein modeling; but this correlation should be validated in larger cohorts and pathogenicity of the missense variants should be investigated with functional studies. Clinical features of the 35 individuals suggest that biallelic ZNF142 variants lead to a syndromic neurodevelopmental disorder with mild to moderate ID, varying degrees of delay in language and gross motor development, early onset seizures, hypotonia, behavioral features, movement disorders, and facial dysmorphism. The differences in symptom frequencies observed in the unpublished individuals compared to those of published, and recognition of previously underemphasized facial features are likely to be due to the small sizes of the previous cohorts, which underlines the importance of larger cohorts for the phenotype descriptions of rare genetic disorders.

Published
2022

172. Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy

Author

Magrinelli, Francesca, Cali, Elisa, Braga, Vinicius Lopes, Yis, Uluc, Tomoum, Hoda, Shamseldin, Hanan, Raiman, Julian, Kernstock, Christoph, Rezende Filho, Flavio Moura, Povoas Barsottini, Orlando Graziani, Taylor, Robert W., Ostergaard, Elsebet, Tamim, Abdullah, Schaeferhoff, Karin, Ferraz Sallum, Juliana Maria, Zaki, Maha S., Kok, Fernando, Bhatia, Kailash P., Wissinger, Bernd, Sergeant, Kate, Haack, Tobias B., Horvath, Rita, Hiz, Semra, Alkuraya, Fowzan S., Houlden, Henry, Pedroso, Jose Luiz, Maroofian, Reza, Magrinelli, Francesca, Cali, Elisa, Braga, Vinicius Lopes, Yis, Uluc, Tomoum, Hoda, Shamseldin, Hanan, Raiman, Julian, Kernstock, Christoph, Rezende Filho, Flavio Moura, Povoas Barsottini, Orlando Graziani, Taylor, Robert W., Ostergaard, Elsebet, Tamim, Abdullah, Schaeferhoff, Karin, Ferraz Sallum, Juliana Maria, Zaki, Maha S., Kok, Fernando, Bhatia, Kailash P., Wissinger, Bernd, Sergeant, Kate, Haack, Tobias B., Horvath, Rita, Hiz, Semra, Alkuraya, Fowzan S., Houlden, Henry, Pedroso, Jose Luiz, and Maroofian, Reza

Abstract

Background Biallelic loss-of-function NDUFA12 variants have hitherto been linked to mitochondrial complex I deficiency presenting with heterogeneous clinical and radiological features in nine cases only. Objectives To fully characterize, both phenotypically and genotypically, NDUFA12-related mitochondrial disease. Methods We collected data from cases identified by screening genetic databases of several laboratories worldwide and systematically reviewed the literature. Results Nine unreported NDUFA12 cases from six pedigrees were identified, with presentation ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI showed basal ganglia abnormalities (n = 6), optic atrophy (n = 2), or was unremarkable (n = 1). All carried homozygous truncating NDUFA12 variants, three of which are novel. Conclusions Our case series expands phenotype-genotype correlations in NDUFA12-associated mitochondrial disease, providing evidence of intra- and inter-familial clinical heterogeneity for the same variant. It confirms NDUFA12 variants should be included in the diagnostic workup of Leigh/Leigh-like syndromes - particularly with dystonia - as well as isolated optic atrophy.

Published
2022

177. Globular glial tauopathy type II.

Author

Cullinane, Patrick W., Sidle, Katie, Bhatia, Kailash P., Revesz, Tamas, and Warner, Thomas T.

Subjects
TAUOPATHIES, RARE diseases
Abstract

The globular glial tauopathies (GGTs) are a rare group of neurodegenerative diseases with fewer than 90 autopsy-confirmed cases reported in the literature. Although there has been some uncertainty about whether GGT is entirely distinct from progressive supranuclear palsy, a recent study of tau filament structures supports the definition of GGT as a separate neuropathological entity. We present a sporadic case of GGT type II presenting with a progressive corticobasal--primary lateral sclerosis overlap syndrome in a 74-year-old woman. Neuropathological examination identified neuronal and glial tau inclusions, including globular astrocytic and oligodendroglial inclusions. We also discuss the clinical features and molecular pathophysiology of GGT. Increased awareness of this condition could become more important as patients with GGT may be candidates for anti-tau therapies currently undergoing clinical evaluation in patients with other tauopathies. [ABSTRACT FROM AUTHOR]

Published
2023
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185. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Author

Christensen, Maria B., primary, Levy, Amanda M., additional, Mohammadi, Nazanin A., additional, Niceta, Marcello, additional, Kaiyrzhanov, Rauan, additional, Dentici, Maria Lisa, additional, Al Alam, Chadi, additional, Alesi, Viola, additional, Benoit, Valérie, additional, Bhatia, Kailash P., additional, Bierhals, Tatjana, additional, Boßelmann, Christian M., additional, Buratti, Julien, additional, Callewaert, Bert, additional, Ceulemans, Berten, additional, Charles, Perrine, additional, De Wachter, Matthias, additional, Dehghani, Mohammadreza, additional, D'haenens, Erika, additional, Doco‐Fenzy, Martine, additional, Geßner, Michaela, additional, Gobert, Cyrielle, additional, Guliyeva, Ulviyya, additional, Haack, Tobias B., additional, Hammer, Trine B., additional, Heinrich, Tilman, additional, Hempel, Maja, additional, Herget, Theresia, additional, Hoffmann, Ute, additional, Horvath, Judit, additional, Houlden, Henry, additional, Keren, Boris, additional, Kresge, Christina, additional, Kumps, Candy, additional, Lederer, Damien, additional, Lermine, Alban, additional, Magrinelli, Francesca, additional, Maroofian, Reza, additional, Vahidi Mehrjardi, Mohammad Yahya, additional, Moudi, Mahdiyeh, additional, Müller, Amelie J., additional, Oostra, Anna J., additional, Pletcher, Beth A., additional, Ros‐Pardo, David, additional, Samarasekera, Shanika, additional, Tartaglia, Marco, additional, Van Schil, Kristof, additional, Vogt, Julie, additional, Wassmer, Evangeline, additional, Winkelmann, Juliane, additional, Zaki, Maha S., additional, Zech, Michael, additional, Lerche, Holger, additional, Radio, Francesca Clementina, additional, Gomez‐Puertas, Paulino, additional, Møller, Rikke S., additional, and Tümer, Zeynep, additional

Published
2022
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187. Ethnic Differences in Dystonia Prevalence and Phenotype

Author

Mulroy, Eoin, primary, Macerollo, Antonella, additional, Scotton, Sangeeta, additional, Cociasu, Ioana, additional, Di Lazzaro, Giulia, additional, Bashir, Shaima, additional, Doherty, John, additional, Hamid, Shahd, additional, Mooney, Nicole, additional, Batla, Amit, additional, Morgante, Francesca, additional, and Bhatia, Kailash P., additional

Published
2022
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192. Atypical parkinsonism

Author

Edwards, Mark J., primary, Stamelou, Maria, additional, Quinn, Niall, additional, and Bhatia, Kailash P., additional

Published
2016
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193. Dystonia

Author

Edwards, Mark J., primary, Stamelou, Maria, additional, Quinn, Niall, additional, and Bhatia, Kailash P., additional

Published
2016
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195. Parkinson’s disease

Author

Edwards, Mark J., primary, Stamelou, Maria, additional, Quinn, Niall, additional, and Bhatia, Kailash P., additional

Published
2016
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