THE great increase in successful linkage studies in a number of higher eukaryotes during
recent years has essentially resulted from major improvements in reference genetic linkage …

Muscle coenzyme Q 10 (CoQ 10 or ubiquinone) deficiency has been identified in more than
20 patients with presumed autosomal-recessive ataxia. However, mutations in genes …

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a
neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis pigmentosa, …

While Friedreich's ataxia (FRDA) and ataxia telangiectasia (AT) are known to be the two most
frequent forms of autosomal recessive cerebellar ataxia (ARCA), knowledge on the other …

Autosomal-recessive cerebellar ataxias comprise a clinically and genetically heterogeneous
group of neurodegenerative disorders. In contrast to their dominant counterparts, …

Large genomic deletions within the mismatch repair MLH1and MSH2 genes have been
identified in families with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, and …

Neurodevelopmental disorders with periventricular nodular heterotopia (PNH) are etiologically
heterogeneous, and their genetic causes remain in many cases unknown. Here we show …

We previously localized a new form of recessive ataxia with generalized tonic-clonic epilepsy
and mental retardation to a 19 Mb interval in 16q21-q23 by homozygosity mapping of a …

L1 syndrome results from mutations in the L1CAM gene located at Xq28. It encompasses a
wide spectrum of diseases, X-linked hydrocephalus being the most severe phenotype …

Background Most reported patients carrying GNAO1 mutations showed a severe phenotype
characterized by early‐onset epileptic encephalopathy and/or chorea. Objective The aim …