Early-onset parkinsonism-intellectual disability syndrome

Parkinsonian gait
Specialty| Medical genetics
Prognosis| Medium
Frequency| very 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).[1][2][3]Additional symptoms include epilepsy, strabismus, and frontal bossing.[4]

## 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" (in en). Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2379.
2. ↑ "Early-onset parkinsonism-intellectual disability syndrome". NIH Genetic Testing Registry (GTR) - NCBI. National Center for Biological Information, U.S. National Institues of Health. https://www.ncbi.nlm.nih.gov/gtr/conditions/C0796195/.
3. ↑ "Early-onset parkinsonism-intellectual disability syndrome - About the Disease" (in en). Genetic and Rare Diseases Information Center. U.S. National Institutes of Health. https://rarediseases.info.nih.gov/diseases/3203/early-onset-parkinsonism-intellectual-disability-syndrome.
4. ↑ "Waisman Syndrom; WSMN" (in en). 2022-06-11. http://www.mendelian.co/diseases/waisman-syndrome-wsmn.
5. ↑ "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. December 2014. doi:10.1016/j.ajhg.2014.10.015. PMID 25434005.
6. ↑ "Waisman Suyndrome; WSMN" (in en-us). Online Mendelian Inheritance in Man (OMIM). https://omim.org/entry/311510#2.
7. ↑ "An X-linked recessive basal ganglia disorder with mental retardation". American Journal of Medical Genetics 21 (4): 681–689. August 1985. doi:10.1002/ajmg.1320210409. PMID 4025396.
8. ↑ "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. December 2014. doi:10.1016/j.ajhg.2014.10.015. PMID 25434005.
9. ↑ "The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease". Molecular Neurodegeneration 10: 50. September 2015. doi:10.1186/s13024-015-0045-4. PMID 26399558.

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