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2 patient data entries collated from reference Martikainen et al, 2016. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 666 | Splice site
mutation:
c.1250+5G>C
| A467T2
| Parkinsons, PEO, short-term memory problems, general cerebral and cerebellar atrophy. | | | 81 | 50 | n/a | | 667 | | Y955C1
| Parkinsonism, restless legs syndrome. Good response to levodopa and ropinirole. PEO, cerebellar ataxia, neuropathy, myopathy, sensorineural hearing loss. | | - | movement disorder (ataxia) | |
| | 63 | 40 | n/a |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.
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