We aimed to perform a comprehensive systematic review of the existing ataxia scales. We
described the disorders for which the instruments have been validated and used, the time …

Supporting consultands to communicate risk information with their relatives is key to
obtaining the full benefits of genetic health care. To understand how health-care …

Prevalence of hereditary ataxias varies largely among populations. Several factors are
involved in this variation. In the ataxias caused by repeat expansions, these may include the …

Abstract Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal
recessive ataxia. We have now identified causative mutations in 15 families, which allows us …

The newly recognized ataxia–ocular apraxia 1 (AOA1; MIM 208920),,, is the most frequent
cause of autosomal recessive ataxia in Japan,,,,,, and is second only to Friedreich ataxia in …

Migraine with aura is a common, debilitating, recurrent headache disorder associated with
transient and reversible focal neurological symptoms. A role has been suggested for the two …

Machado-Joseph disease (MJD) is associated with the expansion of a CAG trinucleotide
repeat in a novel gene on 14q32. 1. We confirmed the presence of this expansion in 156 …

Familial amyloidotic polyneuropathy (FAP‐type I) was first described in Portugal by Andrade
in 1952, a time when 54 among 64 patients (belonging to 25 families) originated from Póvoa …

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to
mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral …

The interface between assisted reproductive technologies (ART) and genetics comprises
several sensitive and important issues that affect infertile couples, families with severe …