ARSACS goes global
2004; Lippincott Williams & Wilkins; Volume: 62; Issue: 1 Linguagem: Inglês
10.1212/wnl.62.1.10
ISSN1526-632X
Autores Tópico(s)Hereditary Neurological Disorders
ResumoThree reports in this issue of Neurology illustrate what we should expect to see as a trend for clinical neurogenetics in the future1–3⇓⇓; that is, as the genetic basis is revealed for disorders identified with a specific regional or ethnic population, allelic disorders for each will be identified worldwide. Crisculo et al.3 and Grieco et al.,1 in patients from Italy, and Ogawa et al.,2 in patients from Japan, identify a series of new mutations in the SACS gene responsible for the disease known as autosomal recessive spastic ataxia of the Charlevoix-Saguenay region (ARSACS). Another report included patients from Tunisia.4 This disorder owes its long name to its high prevalence in two small regions of Quebec where individuals bearing one point mutation settled from Europe in the mid-1800s.5,6⇓ The propagation of the descendants of these individuals within a relatively small founder population led to a high carrier frequency for this mutation.5,6⇓ By the late 1970s a series of clinical …
Referência(s)