To participate in this study, contact: Phillipa Lamont
Research site: Royal Perth Hospital/Western Australia Institute for Medical Research
Disorder/Disease |
Syndrome of cerebellar ataxia with prominent motor and sensory neuropathy and chronic cough |
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Coordinator |
Phillipa Lamont |
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Patient inclusion/exclusion criteria |
Do you know of a patient or family with a similar presentation to that described below?
- Clinical presentation: Two affected brothers presented in their mid 50s with weakness about the ankles, poor balance and a chronic cough. There were cerebellar signs with saccadic interruption of eye movements and a wide-based gait, and later on dysarthria.
- The mode of inheritance is probably recessive (parents consanguineous), but could be dominant (germline de novo).
- Creatine kinase levels were elevated (as high as 580 and 1020).
- Nerve conduction studies indicated a severe sensorimotor peripheral neuropathy, at least as prominent as the cerebellar ataxia.
- Muscle biopsies exhibit numerous atrophic fibres and group atrophy, in keeping with a neurogenic cause.
- Electron microscopy displayed subsarcolemmal accumulation of pleomorphic mitochondria with large electron dense inclusions.
- MRI of the head showed progressive atrophy of the cerebellum, principally of the vermis, and thinning of the brainstem.
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Methods |
Genetic analyses |
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