Kufor–Rakeb syndrome
Kufor–Rakeb syndrome is an autosomal recessive disorder of juvenile onset also known as Parkinson disease-9 (PARK9).[1]
| Kufor–Rakeb syndrome | |
|---|---|
| Other names | KRS |
| Causes | Mutations in the ATP13A2 gene |
| Frequency | <1:1,000,000 |
Presentation
Symptoms include supranuclear gaze palsy, spasticity and dementia.[1] Other features include atypical parkinsonism with pyramidal signs and a characteristic minimyoclonus.
There is considerable variation in the phenotype.
Genetics
It is associated with mutations in the ATP13A2 gene. This gene is located on the short arm of chromosome 1 (1p36.13).
Mutations in this gene have also been associated with hereditary spastic paraplegia, uncomplicated early - or late-onset parkinsonism and neuronal ceroid lipofuscinosis.
History
It is named after Kufr Rakeb in Irbid, Jordan.
References
- Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ (October 2005). "Kufor–Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia". Mov. Disord. 20 (10): 1264–71. doi:10.1002/mds.20511. PMID 15986421.
External links
| Classification | |
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| External resources |
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