Early-onset parkinsonism-intellectual disability syndrome

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).[1][2][3] Additional symptoms include epilepsy, strabismus, and frontal bossing.[4]

Early-onset parkinsonism-intellectual disability syndrome
Parkinsonian gait
SpecialtyMedical genetics
PrognosisMedium
Frequencyvery rare, more than 12 cases have been described in medical literature
Deaths-

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.[5]

Epidemiology

More than 12 cases from 3 families from Australia and the U.S. have been described in medical literature.[6][7][8][9]

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 Institues 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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