Abstract Details

Title Characterization of Peripheral Neuropathies in Spinocerebellar Ataxias: A Peruvian Cohort Study

Topic Movement Disorders

Presentation(s) P4 - Poster Session 4 (8:00 AM-9:00 AM)

Poster/Presentation
Number 16-007

Objective To describe peripheral neuropathies in patients with spinocerebellar ataxias (SCAs).

Background SCAs are autosomal dominant hereditary diseases characterized by heterogeneous clinical manifestations with peripheral neuropathies reported across different SCAs subtypes. Although several SCAs have been reported in Peru, the occurrence of peripheral neuropathies remains unknown in this population.

Design/Methods We conducted a retrospective cross-sectional study reviewing medical records of genetically confirmed SCA patients followed at the national referral ataxia outpatient clinic in Peru..

Results We analyzed 135 individuals (48.9% female), mean age at evaluation 47 ± 14.9 years, mean age at onset 35.4 ± 13.7 years, and mean disease duration 11.6 ± 8.4 years. Subtypes distribution was SCA10 (69.6%), followed by SCA2 (19.3%), MJD/SCA3 (6.7%), SCA7 (2.2%), SCA6 (1.5%), and SCA1 (0.7%). Neuropathy symptoms were common across the cohort, affecting up to 73% of patients. Nerve conduction studies (NCS) were available for a subset of patients (67/135). Among them, peripheral neuropathy was confirmed in 22 cases (11 SCA2, 6 MJD/SC3, 4 SCA10, 1 SCA6) predominantly of the axonal type. Polyneuropathy prevalence differed across subtypes (SCA10 8.7%, SCA2 78.6%, MJD/SCA3 100%, SCA6 100%). In an exploratory analysis, NESSCA score were higher in patients with polyneuropathy (12.0 vs 9.9; p = 0.031), whereas SARA (14.3 vs 13.1; p = 0.11) and age at onset (34.2 vs 35.3 years; p = 0.55) showed no significant differences. CAG repeat length (major allele) showed no association with polyneuropathy (p = 0.760).

Conclusions In this Peruvian cohort, neuropathy symptoms were common, and one third of tested patients showed predominantly axonal polyneuropathy, with higher prevalence in SCA2 and MJD/SCA3. Higher NESSCA scores correlated with polyneuropathy occurrence.

Authors/Disclosures
Jesus Daniel Gutierrez Arratia, MD PRESENTER	Dr. Gutierrez Arratia has nothing to disclose.
Fitzgerald Aquiles Arroyo Ramirez, MD (Instituto Nacional de Ciencias Neurologicas)	Dr. Arroyo Ramirez has nothing to disclose.
Alonso Abad, MD	Dr. Abad has nothing to disclose.
Brenda Oporto, MD	Dr. Oporto has nothing to disclose.
Edson J. Mattos Castillo, Sr., MD	Dr. Mattos Castillo has nothing to disclose.
Milagros Galecio-Castillo, MD	Dr. Galecio-Castillo has nothing to disclose.
Elison Sarapura-Castro, MD (Instituto Nacional De Ciencias Neurologicas)	Dr. Sarapura-Castro has nothing to disclose.
Mario R. Cornejo Olivas, MD (INSTITUTO NACIONAL DE CIENCIAS NEUROLOGICAS)	Dr. Cornejo Olivas has received research support from UNIVERSIDAD CIENTIFICA DEL SUR. The institution of Dr. Cornejo Olivas has received research support from CHDI. The institution of Dr. Cornejo Olivas has received research support from NIH. The institution of Dr. Cornejo Olivas has received research support from GP2/ASAP/MJFF. Dr. Cornejo Olivas has a non-compensated relationship as a Secretary elect with MDS-PAS that is relevant to AAN interests or activities.

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