Movement disorders clinical practice · 2023
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.
СтатьяНазвание и аннотация: Перевод в очереди
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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
Аннотация
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.
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.