Premium
Clinical and genetic epidemiological study of 16q22.1‐linked autosomal dominant cerebellar ataxia in western Japan
Author(s) -
Hayashi M.,
Adachi Y.,
Mori M.,
Nakano T.,
Nakashima K.
Publication year - 2007
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.2007.00815.x
Subject(s) - spinocerebellar ataxia , medicine , ataxia , cerebellar ataxia , epidemiology , psychiatry
Objective – Autosomal dominant cerebellar ataxia (ADCA) is a heterogeneous neurodegenerative disorder. A single nucleotide substitution in the puratrophin‐1 gene is associated with 16q22.1‐linked ADCA showing pure cerebellar ataxia. We screened patients with spinocerebellar degeneration (SCD) to investigate the frequency and clinical features of 16q22.1‐linked ADCA. Materials and methods – We examined 91 SCD patients from a 1998 community‐based prevalence study of Tottori Prefecture in western Japan. We also analyzed samples from 176 patients with SCD collected from a 1996 to 2006 laboratory‐based study. Results – In the community‐based study, the prevalence of spinocerebellar ataxia 6 (SCA6) and 16q22.1‐linked ADCA was 2.4 and 1.12 per 100,000 individuals, respectively. In the laboratory‐based study, the frequency of SCA6 and 16q22.1‐linked ADCA was 28% and 17%, respectively. We found two cases of 16q22.1‐linked ADCA among 26 SCD patients with no family history. Conclusion – In this area in Japan, 16q22.1‐linked ADCA was the second most common type of hereditary SCD.