The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …

With the increase in the ageing population, neurodegenerative disease is devastating to
families and poses a huge burden on society. The brain and spinal cord are extraordinarily …

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by
motor neuron loss. ALS is now associated with mutations in numerous genes, many of which …

Amyotrophic lateral sclerosis (ALS) is a terminal late-onset condition characterized by the
loss of upper and lower motor neurons. Mutations in more than 30 genes are associated to …

Objective Amyotrophic lateral sclerosis (ALS) incidence rates are consistent with the
hypothesis that ALS is a multistep process. We tested the hypothesis that carrying a large …

Dominantly inherited spinocerebellar ataxias (SCAs) are associated with phenotypes that
range from pure cerebellar to multisystemic. The list of implicated genes has lengthened in …

Background Riluzole has been reported to be beneficial in patients with cerebellar ataxia;
however, effectiveness in individual subtypes of disease is unclear due to heterogeneity in …

Amyotrophic lateral sclerosis (ALS) is a devastating and fatal neurodegenerative disorder,
caused by the degeneration of upper and lower motor neurons for which there is no truly …

We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic
lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases …

Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are the strongest genetic risk
factor for amyotrophic lateral sclerosis (ALS). At the molecular level, ATXN2 intermediate …