Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report.

Background: The autosomal dominant spinocerebellar ataxias (SCAs) confine a group of rare and heterogeneous disorders, which present with progressive ataxia and numerous other features e.g. peripheral neuropathy, macular degeneration and cognitive impairment, and a subset of these disorders is caused by CAG-repeat expansions in their respective genes.

[Dementia in amyotrophic lateral sclerosis].

New clinical findings suggest a connection between Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). The two diseases are often seen simultaneously, which complicates the course of the disease for the ALS-patient and the relatives. This paper illustrates this problem and describes a way to monitor the ALS-patient's cognitive and personal changes in an effort to improve his or her rehabilitation and palliation.

Cognitive deficits in long-term survivors of childhood brain tumors: Identification of predictive factors.

Background: To describe cognitive function and to evaluate the association between potentially predictive factors and cognitive outcome in an unselected population of survivors of childhood brain tumors.

Procedure: We studied a consecutive sample of 133 patients (76 had received radiotherapy (RT)) who had a brain tumor diagnosed before the age of 15 years and were treated during the period January 1970 through February 1997 in the Eastern part of Denmark. Biologic effective dose of irradiation (BED) was assessed in 71 patients.