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
Coordinator Phillipa Lamont
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.
Methods Genetic analyses