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NIH GARD Information: Autosomal dominant neuronal ceroid lipofuscinosis 4B

This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).

Synonyms

  • CLN4B disease
  • CLN4B
  • Kuf's disease, autosomal dominant
  • Ceroid lipofuscinosis, neuronal, Parry type
  • Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant
  • Neuronal ceroid lipofuscinosis 4B
  • Adult neuronal ceroid lipofuscinosis 4B
  • Kuf's disease type B

Overview

Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and involuntary movements such as tremors or tics. It can be caused by changes (mutations) in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options are limited to therapies that can help relieve some of the symptoms.[5653][9561][9562]

For more information, visit GARD.

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