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- Title
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.
- Authors
Baviera‐Muñoz, Raquel; Carretero‐Vilarroig, Lidón; Muelas, Nuria; Sivera, Rafael; Sopena‐Novales, Pablo; Martínez‐Sanchis, Begoña; Sastre‐Bataller, Isabel; Campins‐Romeu, Marina; Martínez‐Torres, Irene; García‐Verdugo, Jose Manuel; Millán, Jose M.; Jaijo, Teresa; Aller, Elena; Bataller, Luis
- Abstract
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.
- Subjects
SPAIN; SPINOCEREBELLAR ataxia; FRIEDREICH'S ataxia; CEREBELLAR ataxia; HAPLOTYPES; AGE of onset; PARKINSONIAN disorders
- Publication
Movement Disorders Clinical Practice, 2023, Vol 10, Issue 6, p992
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.13740