Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study

We describe three sibling patients with autosomal dominantly inherited sens ory neuropathy, sensorineural hearing loss and dementia. The features of co gnitive-behavioral deficits in the patients, including executive dysfunctio n, apathy, indifference and inattention, were consistent with a frontal lob e 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 hypo metabolism or a hypoperfusion in the medial frontal and thalamic regions. P rimary frontal involvement or frontal dysfunction secondary to thalamic les ions may contribute to the nature of dementia in these patients, Eur J Neur ol 6:357-361 (C) 1999 Lippincott Williams & Wilkins.