1 Nottingham Children's Hospital, National Paediatric Ataxia Telangiectasia Clinic, QMC, Nottingham, UK Background and aims Ataxia telangiectasia (A-T) is a rare progressive, multisystem genetic ...

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Laboratory investigations revealed elevated serum alfa-fetoprotein with a decreased serum IgA level. The patient was diagnosed with ataxia telangiectasia (A-T), which was confirmed with whole genome ...

Bill Nye, one of the nation's most popular scientists is headed to Capitol Hill to bring awareness to the rare neurological disease Ataxia. The dedicated scientist is teaming up with the National ...

A new study reveals that the protein alpha-synuclein, known for its role in Parkinson’s disease, also contributes to the ...

Classmates and coaches of Bryce Biros say he is the embodiment of Gunter’s motto, tough people win. Now, his classmates hope ...

Diagnosis: Fragile X-associated tremor/ataxia syndrome (FXTAS) resulting from a premutation (CGG repeat) expansion of the FMR1 gene. Management: Explanation of the genetic ramifications of ...

Friedreich’s ataxia (FA) is a neurodegenerative disease most people have never heard of, and it remains widely misunderstood —and for the hundreds of Canadians who live with it, the lack of ...

Myelodysplastic syndromes (MDS) comprise the most common malignant blood disorder. MDS are increasing in frequency owing to an ageing population and increased awareness of these diseases.

If this sounds familiar, you might have idiopathic postprandial syndrome (IPS). The term “idiopathic” means that the cause is unknown, and “postprandial” means that it occurs after a meal.

Wernicke-Korsakoff syndrome is a neurological condition caused by a long-term deficiency of vitamin B1 (thiamine). It involves two brain disorders that often occur together: Wernicke encephalopathy ...