Adult polyglucosan body disease

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Classification according to ICD-10
E74.0 Glycogen storage disease (glycogenosis)
ICD-10 online (WHO version 2019)
Polyglucosan bodies in brain tissue. PAS staining. 400x magnification

The adult Polyglucosankörper disease (English: adult Polyglucosan body disease, abbreviated APBD) is an autosomal - recessive inherited metabolic disorder that the group of glycogen storage part (glycogen storage). The very rare disease was first described in 1980 and is clinically noticeable primarily through slowly progressive dementia and muscle weakness. Also bladder dysfunction , a polyneuropathy or Parkinson's symptoms may occur.

In part, the disease (like glycogenosis type IV ) is associated with a reduced activity of the 1,4-α-glucan-branching enzyme . Mutations in the GBE1 gene , which codes for this enzyme involved in the synthesis of glycogen , could be detected.

The detection of polyglucosan bodies is characteristic neuropathologically. These are inclusion bodies containing polysaccharide in astrocytes and also nerve cell processes that resemble so-called Lafora bodies and are strongly marked in the PAS staining . PAS positive inclusion bodies also occur in the peripheral nervous system and other organs; their detection can be diagnostic , for example, in the nerve biopsy .

The disease progresses slowly, and specific treatment is not possible.

Individual evidence

  1. ^ Y. Robitaille et al.: A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal aging . In: Brain. 1980; 103 (2), pp. 315-336, PMID 6249438 .
  2. ↑ C. Bruno et al .: Glycogen branching enzyme deficiency in adult polyglucosan body disease. In: Ann Neurol. 1993; 33 (1), pp. 88-93, PMID 8494336 .
  3. ^ A. Lossos et al .: Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. In: Ann Neurol. 1998; 44 (6), pp. 867-872, PMID 9851430 .

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