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  2. Spinocerebellar ataxia - Wikipedia

    en.wikipedia.org/wiki/Spinocerebellar_ataxia

    In 2008, a genetic ataxia blood test developed to test for 12 types of SCA, Friedreich's ataxia, and several others. However, since not every SCA has been genetically identified some SCAs are still diagnosed by neurological examination, which may include a physical exam, family history, MRI scanning of the brain and spine, and spinal tap.

  3. Friedreich's ataxia - Wikipedia

    en.wikipedia.org/wiki/Friedreich's_ataxia

    Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination . The condition typically manifests in childhood or adolescence, with initial ...

  4. Machado–Joseph disease - Wikipedia

    en.wikipedia.org/wiki/Machado–Joseph_disease

    Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease, Machado's disease, Joseph's disease or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, [1] [2] which results in a lack of muscle control and coordination of the upper and lower extremities. [3]

  5. Anticipation (genetics) - Wikipedia

    en.wikipedia.org/wiki/Anticipation_(genetics)

    Several spinocerebellar ataxias; Huntington's disease – CAG; Myotonic dystrophy – CTG; Dyskeratosis congenita – TTAGGG (telomere repeat sequence) [1] Autosomal recessive. Friedreich ataxia – GAA (Note: Friedreich ataxia does not usually exhibit anticipation because it is an autosomal recessive disorder. [2]) X-linked. Fragile X syndrome ...

  6. Ataxin-2 - Wikipedia

    en.wikipedia.org/wiki/Ataxin-2

    Longer expansions can cause spinocerebellar ataxia type 2 (SCA2), a fatal progressive genetic disorder in which neurons degenerate in the cerebellum, inferior olive, pons, and other areas. Symptoms of SCA2 include ataxia (a loss of coordinated movements), parkinsonism, and dementia in some cases. [11]

  7. Trinucleotide repeat disorder - Wikipedia

    en.wikipedia.org/wiki/Trinucleotide_repeat_disorder

    SCA1 (Spinocerebellar ataxia Type 1) ATXN1: 6 - 35: 49 - 88 SCA2 (Spinocerebellar ataxia Type 2) ATXN2: 14 - 32: 33 - 77 SCA3 (Spinocerebellar ataxia Type 3 or Machado-Joseph disease) ATXN3: 12 - 40: 55 - 86 SCA6 (Spinocerebellar ataxia Type 6) CACNA1A: 4 - 18: 21 - 30 SCA7 (Spinocerebellar ataxia Type 7) ATXN7: 7 - 17: 38 - 120 SCA17 ...

  8. Cerebellar ataxia - Wikipedia

    en.wikipedia.org/wiki/Cerebellar_ataxia

    Cerebellar ataxia is a form of ataxia originating in the cerebellum. [1] Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. [ 2 ]

  9. Trinucleotide repeat expansion - Wikipedia

    en.wikipedia.org/wiki/Trinucleotide_repeat_expansion

    Friedreich's ataxia is an autosomal recessive disorder cause by a GAA expansion in the intron of the FXN gene. This gene codes for the protein frataxin, a mitochondrial protein involved in iron homeostasis. The mutation impairs transcription of the protein, so affected cells produce only 5-10% of the frataxin of healthy cells. [45]

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