Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease

J Neurol Sci. 1994 Jan;121(1):50-6. doi: 10.1016/0022-510x(94)90156-2.

Abstract

We report the clinical findings in 19 Finnish patients, including six pairs of siblings, with a new, early onset spinocerebellar ataxia. The slowly progressive clinical symptoms manifested between one and two years of age in previously healthy infants. The first manifestation of children at that age was clumsiness and loss of ability to walk. Ataxia, athetosis and muscle hypotonia with loss of deep tendon reflexes were discovered on clinical examination. By school age ophthalmoplegia and hearing loss were diagnosed, while sensory neuropathy developed by adolescence. In addition, an acute crisis with status epilepticus was a late manifestation. We found a marked decrease in sensory nerve condition velocities, a progressive loss of myelinated fibers in sural nerve specimen, and abnormal background activity in EEG with advancing age. The main finding in neuroradiological investigations was cerebellar atrophy. The occurrence of the disease in siblings and lack of manifestations in parents indicate recessive inheritance.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Central Nervous System / physiopathology
  • Child
  • Child, Preschool
  • Epilepsy / etiology
  • Female
  • Hearing Disorders / etiology
  • Hereditary Sensory and Autonomic Neuropathies / complications*
  • Hereditary Sensory and Autonomic Neuropathies / genetics
  • Hereditary Sensory and Autonomic Neuropathies / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Medical Records
  • Mental Health
  • Muscles / physiopathology
  • Pedigree
  • Peripheral Nerves / pathology
  • Peripheral Nerves / physiopathology
  • Spinocerebellar Degenerations / complications*
  • Spinocerebellar Degenerations / epidemiology*
  • Spinocerebellar Degenerations / genetics