Juvenile primary lateral sclerosis

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Classification according to ICD-10
G12.2 Motor neuron disease
ICD-10 online (WHO version 2019)

The Juvenile Primary Lateral Sclerosis is a very rare, to the motor neuron diseases associated with congenital disease . In contrast to primary lateral sclerosis , this form already appears in childhood.

Synonyms are: JPLS; Juvenile PLS

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease are mutations in ALS2 - gene on chromosome 2 locus q33.1 basis which for Alsin coded.

Mutations in the ERLIN2 gene at chromosome 8 locus p11.2 have also been detected in isolated cases.

Clinical manifestations

Clinical criteria are:

  • Normal early childhood development
  • Loss of learned motor skills from the age of 2
  • slowly increasing pseudobulbar paralysis and spastic quadriplegia

diagnosis

Electrophysiological neurological examinations and imaging diagnostics show no abnormalities.

Differential diagnosis

The juvenile form of amyotrophic lateral sclerosis ( juvenile ALS ) and the infantile ascending hereditary spastic paralysis are to be distinguished .

therapy

The treatment aims to improve mobility.

literature

  • Grunnet, ML, Leicher, C., Zimmerman, A., Zalneraitis, E., Barwick, M. Primary lateral sclerosis in a child. Neurology 39: 1530-1532, 1989. [PubMed: 2812336, related citations]
  • Gascon, GG, Chavis, P., Yaghmour, A., Stigsby, B., Shums, A., Ozand, P., Siddique, T. Familial childhood primary lateral sclerosis with associated gaze paresis. Neuropediatrics 26: 313-319, 1995. [PubMed: 8719747, related citations] [Full Text]

Individual evidence

  1. ↑ a b c d e lateral sclerosis, juvenile primary. In: Orphanet (Rare Disease Database).
  2. ↑ Primary lateral sclerosis, juvenile.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ A. Al-Saif, S. Bohlega, F. Al-Mohanna: Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. In: Annals of neurology. Volume 72, number 4, October 2012, pp. 510-516, doi: 10.1002 / ana.23641 , PMID 23109145 .

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