Sep 26, 2001

Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22

Brain : a Journal of Neurology
Sonia M RossoJohn C van Swieten

Abstract

Hereditary frontotemporal dementia (FTD) is an autosomal dominant neurodegenerative disorder that is associated with mutations in the tau gene and with the pathological accumulation of hyperphosphorylated tau protein in affected brain cells in about a quarter of cases. However, most FTD families have no demonstrable tau mutations. Here we describe the clinical and neuropathological features of a large family with hereditary FTD. Genetic analysis showed strong evidence for linkage to chromosome 17q21-22 (maximum lod score 3.46, theta = 0 for marker D17S950), but mutations in the tau gene were not found. Clinical symptoms, neuropsychological deficits and neuroimaging findings of affected family members were similar to sporadic and tau-related FTD. The mean age at onset was 61.2 years, with loss of initiative and decreased spontaneous speech as the most prominent presenting symptoms. Pathological examination of the brains of two affected family members showed non-specific neuronal degeneration with dense cytoplasmic ubiquitin-positive inclusions in neurones of the second layer of the frontotemporal cortex and dentate gyrus of the hippocampus. In a number of neurones these inclusions appeared to be located inside the nucleus, altho...Continue Reading

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Mentioned in this Paper

Senile Paranoid Dementia
Establishment and Maintenance of Localization
Biochemical Pathway
SNCA gene
Ubiquitins
Cortex Bone Disorders
Abnormal Degeneration
Adrenal Cortex Diseases
Neurologic Manifestations
Ubiquitin

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