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Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study
Author(s) -
Hojo Kaori,
Imamura Toru,
Takanashi Mayako,
Ishii Kazunari,
Sasaki Masahiro,
Imura Shigeaki,
Ozono Reiko,
Takatsuki Yoko,
Takauchi Shigeru,
Mori Etsuro
Publication year - 1999
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1046/j.1468-1331.1999.630357.x
Subject(s) - medicine , dementia , apathy , frontal lobe , neuroimaging , magnetic resonance imaging , positron emission tomography , executive dysfunction , audiology , neuroscience , atrophy , cognition , pathology , psychiatry , radiology , psychology , disease , neuropsychology
We describe three sibling patients with autosomal dominantly inherited sensory neuropathy, sensorineural hearing loss and dementia. The features of cognitive‐behavioral deficits in the patients, including executive dysfunction, apathy, indifference and inattention, were consistent with a frontal lobe dysfunction. Magnetic resonance imaging showed a diffuse brain atrophy. A fluorodeoxyglucose positron emission tomography in one patient and a single photon emission computed tomography in another demonstrated a glucose hypometabolism or a hypoperfusion in the medial frontal and thalamic regions. Primary frontal involvement or frontal dysfunction secondary to thalamic lesions may contribute to the nature of dementia in these patients.