Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6

被引：0
作者：
Christoph Linnemann
Sophie Tezenas du Montcel
Maryla Rakowicz
Tanja Schmitz-Hübsch
Sandra Szymanski
Jose Berciano
Bart P. van de Warrenburg
Karine Pedersen
Chantal Depondt
Rafal Rola
Thomas Klockgether
Antonio García
Gurkan Mutlu
Ludger Schöls
机构：
[1] University of Tuebingen,Department of Neurology and Hertie
[2] Psychiatric University Hospital,Institute for Clinical Brain Research
[3] AP-HP,Center of Old Age Psychiatry
[4] Groupe Hospitalier Pitié-Salpêtrière Charles-Foix,Department of Clinical Neurophysiology
[5] Biostatistics Unit,Department of Neurology
[6] Sorbonne Universités,Department of Neurology, St. Josef Hospital
[7] Université Pierre et Marie Curie (UPMC) Univ Paris 06,Department of Neurology
[8] UMR_S 1136,Department of Clinical Neurophysiology
[9] Institut Pierre Louis d’Epidémiologie et de Santé Publique,Department of Neurology
[10] INSERM,Department of Neurology
[11] UMR_S 1136,undefined
[12] Institut Pierre Louis d’Epidémiologie et de Santé Publique,undefined
[13] Institute of Psychiatry and Neurology,undefined
[14] University of Bonn,undefined
[15] Ruhr-University Bochum,undefined
[16] University Hospital Marqués de Valldecilla,undefined
[17] IDIVAL,undefined
[18] CIBERNED and UC,undefined
[19] University Hospital Marqués de Valldecilla,undefined
[20] IDIVAL,undefined
[21] CIBERNED and UC,undefined
[22] Radboud University Medical Center,undefined
[23] University of Brussels,undefined
[24] German Research Center for Neurodegenerative Diseases (DZNE),undefined
[25] German Research Center for Neurodegenerative Diseases (DZNE),undefined
来源：
The Cerebellum | 2016年 / 15卷
关键词：
Spinocerebellar ataxia; Peripheral neuropathy; Nerve conduction; Electrophysiology; Progression marker;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Spinocerebellar ataxias (SCAs) are characterized by autosomal dominantly inherited progressive ataxia but are clinically heterogeneous due to variable involvement of non-cerebellar parts of the nervous system. Non-cerebellar symptoms contribute significantly to the burden of SCAs, may guide the clinician to the underlying genetic subtype, and might be useful markers to monitor disease. Peripheral neuropathy is frequently observed in SCA, but subtype-specific features and subclinical manifestations have rarely been evaluated. We performed a multicenter nerve conduction study with 162 patients with genetically confirmed SCA1, SCA2, SCA3, and SCA6. The study proved peripheral nerves to be involved in the neurodegenerative process in 82 % of SCA1, 63 % of SCA2, 55 % of SCA3, and 22 % of SCA6 patients. Most patients of all subtypes revealed affection of both sensory and motor fibers. Neuropathy was most frequently of mixed type with axonal and demyelinating characteristics in all SCA subtypes. However, nerve conduction velocities of SCA1 patients were slower compared to other genotypes. SCA6 patients revealed less axonal damage than patients with other subtypes. No influence of CAG repeat length or biometric determinants on peripheral neuropathy could be identified in SCA1, SCA3, and SCA6. In SCA2, earlier onset and more severe ataxia were associated with peripheral neuropathy. We proved peripheral neuropathy to be a frequent site of the neurodegenerative process in all common SCA subtypes. Since damage to peripheral nerves is readily assessable by electrophysiological means, nerve conduction studies should be performed in a longitudinal approach to assess these parameters as potential progression markers.
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页码：165 / 173
页数：8
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