Early-onset parkinsonism-intellectual disability syndrome
| 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
[edit]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
[edit]More than 12 cases from 3 families from Australia and the U.S. have been described in medical literature.[6][7][8][9]
References
[edit]- ^ "Early onset parkinsonism intellectual disability syndrome". Orphanet. Retrieved 2022-06-11.
- ^ "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.
- ^ "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.
- ^ "Waisman Syndrom; WSMN". www.mendelian.co. 2022-06-11. Retrieved 2022-06-11.
- ^ 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.
- ^ "Waisman Suyndrome; WSMN". Online Mendelian Inheritance in Man (OMIM). 311510. Retrieved 2022-06-11.
- ^ 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.
- ^ 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.
- ^ 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.