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Updated: Jul 26, 2025
Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain
Raquel Baviera-Muñoz1,2,3,4, Lidón Carretero-Vilarroig2,3,5, Nuria Muelas1,2,3,6,7
1Neurology Department Hospital Universitari I Politècnic La Fe Valencia Spain.
Background:
Autosomal dominant spinocerebellar ataxia 36 (SCA36) is caused by hexanucleotide repeat expansion in the NOP56 gene.
Objectives:
To assess frequency, clinical and genetic features of SCA36 in Eastern Spain.
Methods:
NOP56 expansion was tested in a cohort of undiagnosed cerebellar ataxia families (n = 84). Clinical characterization and haplotype studies were performed.
Results:
SCA36 was identified in 37 individuals from 16 unrelated families. It represented 5.4% of hereditary ataxia patients. The majority were originally from the same region and displayed a shared haplotype. Mean age at onset was 52.5 years. Non-ataxic features included: hypoacusis (67.9%), pyramidal signs (46.4%), lingual fasciculations/atrophy (25%), dystonia (17.8%), and parkinsonism with evidence of dopaminergic denervation (10.7%).
Conclusions:
SCA36 is a frequent cause of hereditary ataxia in Eastern Spain, and is associated with a strong founder effect. SCA36 analysis should be considered prior to other studies, especially in AD presentations. Parkinsonism reported here broadens SCA36 clinical spectrum.
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