INTRODUCTION: Subclinical neuropathy is an important feature of spinocerebellar ataxias (SCA) but the true prevalence and electrophysiological characteristics in genetically proven patients of SCA 1, 2 and 3 are largely unknown. METHODS: We prospectively compared the electrophysiological characteristics of neuropathy in 61 genetically confirmed cases of SCA (SCA1=28, SCA2=16 and SCA3=17). Nerve conduction studies were performed in at least one sensory and one motor nerve, in right upper and lower limb using standard methods. RESULTS: The mean age of patients and duration of illness were comparable among SCA groups (mean age (years): SCA1-34.1±12.7, SCA2-35.2±13.9 and SCA3-38.1±11.3; mean duration (years): SCA1-5.4, SCA2-6.1, and SCA3-4.4). Electrophysiological evidence of neuropathy was highest in SCA1 (96.4%), followed by SCA3 (94.1% and SCA2 (87.5%). A mixed sensorimotor neuropathy was commonly observed in all the subgroups (SCA1-78.6%, SCA2-50%, and SCA3-41.2%). Pure sensory neuropathy was most common in SCA3 (55.9%), followed by 31.3% in SCA2 and 17.9% in SCA1. Pure motor neuropathy was uncommon (6.3% in SCA2 and none in SCA1 and SCA3). CONCLUSIONS: Electrophysiological evidence of mixed sensorimotor and pure sensory neuropathy is seen in all the three subtypes of SCAs, while pure motor neuropathy is distinctly uncommon.
INTRODUCTION:Subclinical neuropathy is an important feature of spinocerebellar ataxias (SCA) but the true prevalence and electrophysiological characteristics in genetically proven patients of SCA 1, 2 and 3 are largely unknown. METHODS: We prospectively compared the electrophysiological characteristics of neuropathy in 61 genetically confirmed cases of SCA (SCA1=28, SCA2=16 and SCA3=17). Nerve conduction studies were performed in at least one sensory and one motor nerve, in right upper and lower limb using standard methods. RESULTS: The mean age of patients and duration of illness were comparable among SCA groups (mean age (years): SCA1-34.1±12.7, SCA2-35.2±13.9 and SCA3-38.1±11.3; mean duration (years): SCA1-5.4, SCA2-6.1, and SCA3-4.4). Electrophysiological evidence of neuropathy was highest in SCA1 (96.4%), followed by SCA3 (94.1% and SCA2 (87.5%). A mixed sensorimotor neuropathy was commonly observed in all the subgroups (SCA1-78.6%, SCA2-50%, and SCA3-41.2%). Pure sensory neuropathy was most common in SCA3 (55.9%), followed by 31.3% in SCA2 and 17.9% in SCA1. Pure motor neuropathy was uncommon (6.3% in SCA2 and none in SCA1 and SCA3). CONCLUSIONS: Electrophysiological evidence of mixed sensorimotor and pure sensory neuropathy is seen in all the three subtypes of SCAs, while pure motor neuropathy is distinctly uncommon.
Authors: 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 Journal: Cerebellum Date: 2016-04 Impact factor: 3.847
Authors: Marcio Luiz Escorcio Bezerra; José Luiz Pedroso; Pedro Braga-Neto; Agessandro Abrahao; Marcus Vinicius Cristino de Albuquerque; Franklin Roberto Pereira Borges; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim; Nadia Iandoli de Oliveira Braga; Gilberto Mastrocola Manzano; Orlando G P Barsottini Journal: Cerebellum Date: 2016-12 Impact factor: 3.847
Authors: Leslie J Roberts; Michael McVeigh; Linda Seiderer; Ian H Harding; Louise A Corben; Martin Delatycki; David J Szmulewicz Journal: Neurol Genet Date: 2022-09-28