Karak syndrome

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Classification according to ICD-10
G23.0 Hallervorden-Spatz syndrome - pigment degeneration of the pallidum
ICD-10 online (WHO version 2019)

The Karak syndrome is a very rare congenital , originally as an independent syndrome disease described with mutations in PLA2G6 - gene on chromosome 22 locus q13.1. and is regarded as a subtype of infantile neuroaxonal dystrophy .

The name refers to the place of residence of the family described in Kerak in Jordan .

Synonyms are: English Early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline; Atypical neuroaxonal dystrophy

Individual evidence

  1. ↑ A. Mubaidin, E. Roberts, D. Hampshire, M. Dehyyat, A. Shurbaji, M. Mubaidien, A. Jamil, A. Al-Din, A. Kurdi, CG Woods: Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum. In: Journal of medical genetics. Vol. 40, No. 7, July 2003, pp. 543-546, PMID 12843330 , PMC 1735513 (free full text).
  2. ^ NV Morgan, SK Westaway, JE Morton, A. Gregory, P. Gissen, S. Sonek, H. Cangul, J. Coryell, N. Canham, N. Nardocci, G. Zorzi, S. Pasha, D. Rodriguez, I. Desguerre, A. Mubaidin, E. Bertini, RC Trembath, A. Simonati, C. Schanen, CA Johnson, B. Levinson, CG Woods, B. Wilmot, P. Kramer, J. Gitschier, ER Maher, SJ Hayflick : PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. In: Nature genetics. Vol. 38, No. 7, July 2006, pp. 752-754, doi: 10.1038 / ng1826 , PMID 16783378 , PMC 2117328 (free full text).
  3. ^ Infantile neuraxonal dystrophy. In: Orphanet (Rare Disease Database).

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