adult neuronal ceroid lipofuscinosis/cerebral sphingolipidosis (Kufs type)

Introduction

Rare form of inherited sphingolipidosis.

Epidemiology

• rare
• onset in 30s

Pathology

• see neuronal ceroid lipofuscinosis (Batten's disease)
• neurofibrillary tangles without amyloid plaques

Genetics

• autosomal recessive
• autosomal dominant in 5 generations of 1 family
• associated with mutations in PPT1 gene

Clinical manifestations

• type A
  • progressive myoclonic epilepsy (presenting sign)
  • dementia (later sign)
  • ataxia (later sign)
  • photosensitivity
• type B
  • behavioral changes
  • dementia
  • movement disorders

More general terms

• neuronal ceroid lipofuscinosis

Additional terms

• Kufs, Hugo

Database

• OMIM: https://mirror.omim.org/entry/204300