Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study.
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.
Hojo
K
K
Division of Clinical Neurosciences, Hyogo Institute for Aging Brain and Cognitive Disorders, Himeji, Japan.
Imamura
T
T
Takanashi
M
M
Ishii
K
K
Sasaki
M
M
Imura
S
S
Ozono
R
R
Takatsuki
Y
Y
Takauchi
S
S
Mori
E
E
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