Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain

• Published in: Movement disorders clinical practice (Hoboken, N.J.) Vol. 10; no. 6; pp. 992 - 997
• Main 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
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.06.2023; Wiley Subscription Services, Inc
• Subjects: Brief Report; Brief Reports; genetics; haplotype; spinocerebellar ataxia; spinocerebellar ataxia; genetics; haplotype
• ISSN: 2330-1619; 2330-1619
• DOI: 10.1002/mdc3.13740

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.