Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Other Names: ADCADN; ADCA-DN; Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; ADCA-DN syndrome

A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.

Epidemiology

ADCA-DN has been reported in 24 patients to date from Sweden, the United States, Italy and Brazil.

Cause

ADCA-DN is caused by a mutation in the DNA methyltransferase (DNMT1) gene located on chromosome 19p13.2. It encodes an enzyme essential for the repression of transcriptional activity in numerous postmitotic cells.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

ADCA-DN is inherited autosomal dominantly and genetic counseling is possible. Sporadic cases have also been reported.

Signs and symptoms

Disease onset occurs in adulthood (from the ages of 30-40) with the onset of cerebellar ataxia, narcolepsy with cataplexy, sensorineural deafness and dementia. Optic atrophy, cataracts, psychosis, depression, sensory neuropathy, pseudobulbar signs, incontinence and limb lymphedema have also been reported but present later in the disease course. Mild brain atrophy with cerebellum involvement is visible with magnetic resonance imaging (MRI).

NIH genetic and rare disease info

• NIH info on Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy is a rare disease.

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy Resources
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