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Early-onset parkinsonism-intellectual disability syndrome

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(Redirected from Parkinsonism early onset mental retardation) Medical condition
Early-onset parkinsonism-intellectual disability syndrome
Parkinsonian gait
SpecialtyMedical genetics
PrognosisMedium
Frequencyvery rare, more than 12 cases have been described in medical literature
Deaths-

Early-onset parkinsonism-intellectual disability syndrome is a very rare genetic disorder which is characterized by intellectual disabilities, psychomotor developmental delays, macrocephaly, and Parkinson's disease which starts before the age of 45 (early onset PD). Additional symptoms include epilepsy, strabismus, and frontal bossing.

Causes

This disorder is either caused by alterations or deletions of the RAB39B gene in chromosome Xq28 which are inherited in an X-linked recessive manner.

Epidemiology

More than 12 cases from 3 families from Australia and the U.S. have been described in medical literature.

References

  1. "Early onset parkinsonism intellectual disability syndrome". Orphanet. Retrieved 2022-06-11.
  2. "Early-onset parkinsonism-intellectual disability syndrome". NIH Genetic Testing Registry (GTR) - NCBI. National Center for Biological Information, U.S. National Institutes of Health. Retrieved 2022-06-11.
  3. "Early-onset parkinsonism-intellectual disability syndrome - About the Disease". Genetic and Rare Diseases Information Center. U.S. National Institutes of Health. Retrieved 2022-06-11.
  4. "Waisman Syndrom; WSMN". www.mendelian.co. 2022-06-11. Retrieved 2022-06-11.
  5. Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, et al. (December 2014). "Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology". American Journal of Human Genetics. 95 (6): 729–735. doi:10.1016/j.ajhg.2014.10.015. PMC 4259921. PMID 25434005.
  6. "Waisman Suyndrome; WSMN". Online Mendelian Inheritance in Man (OMIM). 311510. Retrieved 2022-06-11.
  7. Laxova R, Brown ES, Hogan K, Hecox K, Opitz JM (August 1985). "An X-linked recessive basal ganglia disorder with mental retardation". American Journal of Medical Genetics. 21 (4): 681–689. doi:10.1002/ajmg.1320210409. PMID 4025396.
  8. Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, et al. (December 2014). "Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology". American Journal of Human Genetics. 95 (6): 729–735. doi:10.1016/j.ajhg.2014.10.015. PMC 4259921. PMID 25434005.
  9. Mata IF, Jang Y, Kim CH, Hanna DS, Dorschner MO, Samii A, et al. (September 2015). "The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease". Molecular Neurodegeneration. 10: 50. doi:10.1186/s13024-015-0045-4. PMC 4581468. PMID 26399558.
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