title: Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study.
abstract: 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.
authors.affiliation: Division of Clinical Neurosciences, Hyogo Institute for Aging Brain and Cognitive Disorders, Himeji, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Hojo
authors.forename: T
authors.initials: T
authors.lastname: Imamura
authors.forename: M
authors.initials: M
authors.lastname: Takanashi
authors.forename: K
authors.initials: K
authors.lastname: Ishii
authors.forename: M
authors.initials: M
authors.lastname: Sasaki
authors.forename: S
authors.initials: S
authors.lastname: Imura
authors.forename: R
authors.initials: R
authors.lastname: Ozono
authors.forename: Y
authors.initials: Y
authors.lastname: Takatsuki
authors.forename: S
authors.initials: S
authors.lastname: Takauchi
authors.forename: E
authors.initials: E
authors.lastname: Mori
mesh_terms: D003638:Deafness / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D003704:Dementia / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D005260:Female; D005625:Frontal Lobe / Q000000981:diagnostic imaging / Q000473:pathology; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013788:Thalamus / Q000000981:diagnostic imaging / Q000473:pathology; D014055:Tomography, Emission-Computed