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Spinocerebellar Ataxia Type 7: A Neurodegenerative Disorder with Peripheral Neuropathy

2015; Karger Publishers; Volume: 73; Issue: 3-4 Linguagem: Inglês

10.1159/000370239

1421-9913

José Salas-Vargas, Jocelyn Mancera-Gervacio, Luis Velázquez‐Pérez, Roberto Rodrígez-Labrada, Emilio Martínez-Cruz, Jonathan J. Magaña, Alfredo Durand‐Rivera, Óscar Hernández‐Hernández, Bulmaro Cisneros, Rigoberto González-Piña,

Hereditary Neurological Disorders

Autosomal dominant spinocerebellar ataxias (SCA) are a group of inherited neurodegenerative disorders that typically show peripheral neuropathy. SCA7 is one of the rarest forms of SCA (<1/100,000 individuals). However, the disease shows a prevalence of ∼800/100,000 inhabitants in certain regions of Mexico. This low global prevalence may explain, at least in part, the isolated anecdotal and limited clinical data regarding peripheral neuropathy in SCA7 patients.To assess sensory and motor peripheral nerve action potentials in an SCA7 patients group and in healthy volunteers, and subsequently correlate the electrophysiological findings with clinical and genetic features.We enrolled in our study, 13 symptomatic SCA7 patients with a confirmed molecular and clinical diagnosis, and 19 healthy volunteers as the control group. Nerve conduction studies were carried out using standard electromyography recording methods. The sensory and motor latency, amplitude and conduction velocity were recorded in both experimental groups and analyzed using the Student's t-test.SCA7 patients showed a significant prolongation of sensory nerve conduction latencies, as well as a decrease in sensory amplitudes. Decreases in motor amplitudes and peroneal conduction velocity were also observed. Finally, we found an association between CAG repeats and the severity of cerebellar and non-cerebellar symptoms with electrophysiological signs of demyelinization.Our results reveal the existence of a critical sensorimotor peripheral neuropathy in SCA7 patients. Moreover, we show that using sensitive electrophysiological tools to evaluate nerve conduction can improve the diagnosis and design of therapeutic options based on pharmacological and rehabilitative strategies.These findings demonstrate that SCA7 is a disease that globally affects the peripheral nervous system.