Medicine:Early-onset parkinsonism-intellectual disability syndrome
From HandWiki
| 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
- ↑ "Early onset parkinsonism intellectual disability syndrome" (in en). Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2379.
- ↑ "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/.
- ↑ "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.
- ↑ "Waisman Syndrom; WSMN" (in en). 2022-06-11. http://www.mendelian.co/diseases/waisman-syndrome-wsmn.
- ↑ "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.
- ↑ "Waisman Suyndrome; WSMN" (in en-us). Online Mendelian Inheritance in Man (OMIM). https://omim.org/entry/311510#2.
- ↑ "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.
- ↑ "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.
- ↑ "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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