Spinocerebellar Ataxias

A group of predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)

Also Known As:

Spinocerebellar Ataxia; Spinocerebellar Ataxia Type 6; Spinocerebellar Atrophy; Autosomal Dominant Cerebellar Ataxia, Type II; Cerebellar Degeneration with Slow Eye Movements; Cerebelloparenchymal Disorder I; Dominantly-Inherited Spinocerebellar Ataxias; Menzel Type OPCA; OPCA with Macular Degeneration and External Ophthalmoplegia; OPCA with Retinal Degeneration; Olivopontocerebellar Atrophy 2; Olivopontocerebellar Atrophy I; Olivopontocerebellar Atrophy II; Olivopontocerebellar Atrophy III; Olivopontocerebellar Atrophy IV; Olivopontocerebellar Atrophy, Holguin Type; SCA1; Schut-Haymaker Type OPCA; Spinocerebellar Ataxia 1; Spinocerebellar Ataxia 2; Spinocerebellar Ataxia 4; Spinocerebellar Ataxia 5; Spinocerebellar Ataxia 6; Spinocerebellar Ataxia 7; Spinocerebellar Ataxia with Slow Eye Movements; Spinocerebellar Ataxia, Autosomal Dominant, with Sensory Axonal Neuropathy; Spinocerebellar Ataxia, Cuban Type; Spinocerebellar Ataxia-1; Spinocerebellar Ataxia-2; Spinocerebellar Ataxia-4; Spinocerebellar Ataxia-5; Spinocerebellar Ataxia-6; Spinocerebellar Ataxia-7; Spinocerebellar Ataxias, Dominantly-Inherited; Spinocerebellar Atrophy 2; Spinocerebellar Atrophy I; Spinocerebellar Atrophy II; Spinocerebellar Degeneration with Slow Eye Movements; Type 1 Spinocerebellar Ataxia; Type 2 Spinocerebellar Ataxia; Type 4 Spinocerebellar Ataxia; Type 5 Spinocerebellar Ataxia; Type 6 Spinocerebellar Ataxia; Type 7 Spinocerebellar Ataxia; Wadia Swami Syndrome; Wadia-Swami Syndrome; Ataxia 1, Spinocerebellar; Ataxia 2, Spinocerebellar; Ataxia 4, Spinocerebellar; Ataxia 5, Spinocerebellar; Ataxia 6, Spinocerebellar; Ataxia 7, Spinocerebellar; Ataxia, Dominantly-Inherited Spinocerebellar; Ataxia, Spinocerebellar; Ataxias, Dominantly-Inherited Spinocerebellar; Ataxias, Spinocerebellar; Atrophies, Spinocerebellar; Atrophy 2, Olivopontocerebellar; Atrophy 2, Spinocerebellar; Atrophy 2s, Olivopontocerebellar; Atrophy 2s, Spinocerebellar; Atrophy I, Olivopontocerebellar; Atrophy I, Spinocerebellar; Atrophy II, Olivopontocerebellar; Atrophy III, Olivopontocerebellar; Atrophy IIs, Spinocerebellar; Atrophy IV, Olivopontocerebellar; Atrophy IVs, Olivopontocerebellar; Atrophy, Spinocerebellar; Cerebelloparenchymal Disorder Is; Dominantly Inherited Spinocerebellar Ataxias; Dominantly-Inherited Spinocerebellar Ataxia; OPCA, Menzel Type; OPCA, Schut-Haymaker Type; Olivopontocerebellar Atrophy 2s; Olivopontocerebellar Atrophy IIIs; Olivopontocerebellar Atrophy IIs; Olivopontocerebellar Atrophy IVs; Olivopontocerebellar Atrophy Is; SCA1s; Schut Haymaker Type OPCA; Spinocerebellar Ataxia 1s; Spinocerebellar Ataxia 2s; Spinocerebellar Ataxia 4s; Spinocerebellar Ataxia 5s; Spinocerebellar Ataxia 6s; Spinocerebellar Ataxia 7s; Spinocerebellar Ataxia, Dominantly-Inherited; Spinocerebellar Ataxias, Dominantly Inherited; Spinocerebellar Atrophy 2s; Spinocerebellar Atrophy IIs; Spinocerebellar Atrophy Is; Swami Syndrome, Wadia; Syndrome, Wadia Swami; Syndrome, Wadia-Swami; Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 4; Spinocerebellar Ataxia Type 5; Spinocerebellar Ataxia Type 7

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
- Neurologic Manifestations: 7223
  - Dyskinesias: 7933
    - Ataxia: 6487
      - Cerebellar Ataxia: 1566
        Spinocerebellar Ataxias: 2124
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Cerebellar Diseases: 647
      - Cerebellar Ataxia: 1566
        Spinocerebellar Ataxias: 2124
      - Spinocerebellar Degenerations: 355
        Spinocerebellar Ataxias: 2124
  - Spinal Cord Diseases: 4420
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Nervous System Heredodegenerative Disorders: 62
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124

Stefano Firinu Selected Research

Stefano Firinu Research Topics

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Therapy/Procedure