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1. A cross-sectional study investigating frequency and features of definitely diagnosed diabetic painful polyneuropathy

Author

Truini, A, Spallone, V, Morganti, R, Tamburin, S, Zanette, G, Schenone, A, De Michelis, C, Tugnoli, V, Simioni, V, Manganelli, F, Dubbioso, R, Lauria, G, Lombardi, R, Jann, S, De Toni Franceschini, L, Tesfaye, S, Fiorelli, M, Spagnoli, A, Cruccu, G, Marfia, Ga, Truini, Andrea, Spallone, Vincenza, Morganti, Roberto, Tamburin, Stefano, Zanette, Giampietro, Schenone, Angelo, De Michelis, Chiara, Tugnoli, Valeria, Simioni, Valentina, Manganelli, Fiore, Dubbioso, Raffaele, Lauria, Giuseppe, Lombardi, Roberta, Jann, Stefano, De Toni Franceschini, Luisa, Tesfaye, Solomon, Fiorelli, Marco, Spagnoli, Alessandra, and Cruccu, Giorgio

Subjects
Male, Pediatrics, Diabetic neuropathy, Biopsy, Neural Conduction, Neuropathic pain, Settore MED/13 - Endocrinologia, 0302 clinical medicine, Diabetic Neuropathies, Outpatient clinic, Prospective Studies, Prospective cohort study, Pain Measurement, Skin, Aged, 80 and over, Neurologic Examination, Small-fibre neuropathy, medicine.diagnostic_test, small fibre neuropathy, Diabetes, Middle Aged, Neurology, Nerve conduction study, Settore MED/26 - Neurologia, Polyneuropathy, Adult, medicine.medical_specialty, neuropathic pain, peripheral neuropathy, diabetes, Small Fiber Neuropathy, 030209 endocrinology & metabolism, Physical examination, Young Adult, 03 medical and health sciences, Diabetes mellitus, medicine, Humans, Aged, business.industry, medicine.disease, Neurology (clinical), Anesthesiology and Pain Medicine, Cross-Sectional Studies, diabete, Skin biopsy, Neuralgia, diabetic neuropathy, neuropathic pain, small fibre neuropathy, Complication, business, 030217 neurology & neurosurgery
Abstract

This cross-sectional multicentre study aimed at investigating frequency and features of painful diabetic polyneuropathyWe consecutively enrolled 816 patients attending hospital diabetic outpatient clinics. We first definitely diagnosed diabetic polyneuropathy and pure small-fibre polyneuropathy using clinical examination, nerve conduction study, and skin biopsy or quantitative sensory testing. Adhering to widely agreed criteria, we then identified neuropathic pain and diagnosed painful polyneuropathy using a combined approach of clinical examination and diagnostic testsOut of the 816 patients, 36% had a diabetic polyneuropathy associated with male gender, age and diabetes severity; 2.5% of patients had a pure small-fibre polyneuropathy, unrelated to demographic variables and diabetes severity. Of the 816 patients, 115 (13%) suffered from a painful polyneuropathy, with female gender as the only risk factor for suffering from painful polyneuropathyIn this large study, providing a definite diagnosis of diabetic polyneuropathy and pure small-fibre polyneuropathy, we show the frequency of painful polyneuropathy, and demonstrate that this difficult to treat complication is more common in women than in men.

Published
2018

2. Peripheral neuropathy in 30 duodopa patients with vitamins B supplementation.

Author

Rispoli, V., Simioni, V., Capone, J. G., Golfrè Andreasi, N., Preda, F., Sette, E., Tugnoli, V., and Sensi, M.

Subjects
*PERIPHERAL neuropathy, *DIETARY supplements, *PARKINSON'S disease treatment, *VITAMIN B deficiency, *DISEASE incidence
Abstract

Objectives Peripheral neuropathy ( PN) is a significant concern and potential cause of withdrawal in patients with Parkinson's disease ( PD) treated with Levodopa/Carbidopa Intestinal Gel ( LCIG) infusion. Vitamin B deficiency and/or hyperhomocysteinemia levodopa-related are considered possible causative factors. In this study, we evaluated PN incidence in LCIG- PD patients treated since the beginning of infusion with vitamins B supplementation. Materials & Methods In this prospective open-label pilot study, 30 consecutive patients with PD on LCIG infusion were evaluated with clinical, neurophysiological, and biochemical assessments for a mean follow-up of 42.4 months (range 24-72). All evaluations were repeated every 6 months. Results At baseline, 21 of 30 presented no signs or symptoms of PN, and 9 of 30 had pre-existing chronic PN. In whole population, a progressive worsening in nerve conduction studies of sural sensory and peroneal motor nerves was observed during the long-term follow-up. 4 of 21 patients, with normal clinical, electrophysiological assessment at baseline, developed distal symmetrical axonal polyneuropathy that remained asymptomatic during the long-term follow-up. Patients with pre-existing PN (9 of 30) showed a mild worsening of electrophysiological features during the period of observation. In none PN was cause of discontinuation of LCIG therapy. No incident cases of acute-subacute PN were documented. No correlation was found with age, sex, Levodopa dosage, duration of levodopa exposure, and homocysteine plasma levels. Conclusion In this consecutive series of 30 patients with PD on LCIG infusion, with early and continuous vitamins B integration, we observed a low rate (19%) of new onset peripheral polyneuropathy that remained stable after long-term follow-up. Larger studies, controlled, with blinded evaluation, are needed to confirm these findings. [ABSTRACT FROM AUTHOR]

Published
2017
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3. Report of a novel ATP7A mutation causing distal motor neuropathy

Author

Alessandra Ferlini, Francesca Gualandi, Mert Karakaya, Rocco Liguori, Stefano Squarzoni, Fernanda Fortunato, V. Simioni, Marcella Neri, Elisabetta Sette, Domenico De Grandis, Alex Incensi, Vincent Timmerman, Markus Storbeck, Rita Selvatici, Valeria Tugnoli, C. Scotton, Brunhilde Wirth, Stefania Bigoni, Vincenzo Donadio, Gualandi F., Sette E., Fortunato F., Bigoni S., De Grandis D., Scotton C., Selvatici R., Neri M., Incensi A., Liguori R., Storbeck M., Karakaya M., Simioni V., Squarzoni S., Timmerman V., Wirth B., Donadio V., Tugnoli V., and Ferlini A.

Subjects
Male, 0301 basic medicine, Proband, Retrograde ejaculation, Pathology, medicine.medical_specialty, Peripheral neuropathy, ATP7A, Occipital horn syndrome, Socio-culturale, medicine.disease_cause, Cutis Laxa, Muscular Atrophy, Spinal, Autonomic neuropathy, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Missense mutation, ATP7A mutation, Motor Neuron Disease, Menkes Kinky Hair Syndrome, Genetic Association Studies, Genetics (clinical), Aged, Adenosine Triphosphatases, Mutation, business.industry, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, Neurology, Copper-Transporting ATPases, Pediatrics, Perinatology and Child Health, Ehlers-Danlos Syndrome, Menkes disease, Human medicine, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

We describe a novel ATP7A gene mutation associated with distal motor neuropathy, mild connective tissue abnormalities and autonomic disturbances. Next-generation sequencing analysis of a lower-motor neuron diseases gene panel was performed in two sibs presenting with distal motor neuropathy plus an autonomic dysfunction, which main manifestations were retrograde ejaculation, diarrhea and hyperhydrosis. Probands underwent dysmorphological, neurological, electrophysiological as well as biochemical evaluations and somatic and autonomic innervation studies on skin biopsies. A novel missense mutation (p.A991D) was identified in the X-linked ATP7A gene, segregating in both brothers and inherited from their healthy mother. Biochemical studies on patients’ blood samples showed reduced serum copper and ceruloplasmin levels. Clinical and neurophysiological evaluation documented dysautonomic signs. Quantitative evaluation of skin innervation disclosed a small fiber neuropathy with prevalent autonomic involvement. Mutations in the ATP7A gene, encoding for a copper-transporting ATPase, have been associated with the severe infantile neurodegenerative Menkes disease and in its milder variant, the Occipital Horn Syndrome. Only two ATP7A mutations were previously reported as causing, a pure axonal distal motor neuropathy (dHMN-SMAX3). The phenotype we report represents a further example of this rare genotype-phenotype correlation and highlights the possible occurrence in SMAX3 of autonomic disturbances, as described for Menkes disease and Occipital Horn Syndrome.

Published
2019
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4. 55. Neurophysiological monitoring during Duodopa therapy for Parkinson’s disease (PD).

Author

Sette, E., Capone, J.G., Sensi, M., Simioni, V., Roversi, G., and Tugnoli, V.

Subjects
*PARKINSON'S disease treatment, *NEUROPHYSIOLOGY, *PHARMACEUTICAL gels, *SYMPTOMS, *PERIPHERAL neuropathy, *ELECTROPHYSIOLOGY
Abstract

Levodopa/carbidopa intra-duodenal gel (LCIG) was recently introduced as effective therapy in the management of motor complications of PD. In literature symptomatic peripheral neuropathy (PN) has been reported. The aim of the study was to assess neuropathic complications in LCIG pts, by systematic clinical and neurophysiological (Nph) examinations. 20 PD pts (12 men, 8 females) admitted to our department to start LCIG were studied. No signs or symptoms of PN were detected before LCIG. Nph was performed before and 1, 6, 12, 24, 36months after surgery. It included assessment of sensitive, motor and F waves (radial, median, ulnar, peroneal, tibial, sural nerves). Nph revealed PN in 10/20 pts, carpal tunnel syndrome in 2/20, L–S radiculopathy in 2/20. All pts followed vit B12 supplementation. The pts were stable, but 1 who presented a severe PN worsening in a subacute trend until death. PN could be detected in a discrete number of asymptomatic LCIG PD pts. The possible occurance of rare but severe life-threating diseases needs alertness. Electrophysiological monitoring can help the safe management of LCIG. [Copyright &y& Elsevier]

Published
2013
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