Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

摘要: Objective: To determine the incidence of spinocerebellar ataxia (SCA) types 1, 2, 3, 6, and 7 Friedreich9s (FA) among a large panel families. Background: The ataxias are clinically genetically heterogeneous group neurodegenerative diseases that variably affect cerebellum, brainstem, tracts. Trinucleotide repeat expansions have been shown to be mutational mechanism for five dominantly inherited SCAs as well FA. Methods: We collected DNA samples clinical data from patients representing 361 families with adult-onset unknown etiology. Patients diagnosis FA were specifically excluded our collection. Results: Among 178 dominant kindreds, we found SCA1 expansion at frequency 5.6%, SCA2 15.2%, SCA3 20.8%, SCA6 SCA7 4.5%. alleles in 11.4% apparently recessive 5.2% sporadic patients. these sizes one or both relatively small, smaller allele ranging 90 600 GAA repeats. presentation is atypical FA, more following characteristics: adult onset disease, retained tendon reflexes, normal plantar response, intact partially sensory perceptions. Conclusions: Pathogenic trinucleotide 61% kindreds. negative family histories ataxia, 6.8% 4.4% tested positive CAG loci, 11.4 forms had expansions. Because significant implications versus inheritance pattern has future generations, it important screen who do not clearly loci.