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Results 1 - 10 of 21 for progressive cerebellar atrophy
  1. Microcephaly, seizures, and developmental delay 
    ... van de Spek P, Kremer A, Mancini GM. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. ...
    https://medlineplus.gov/...ocephaly-seizures-and-developmental-delay - Genetics
  2. PNKP gene 
    ... van de Spek P, Kremer A, Mancini GM. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. ...
    https://medlineplus.gov/genetics/gene/pnkp - Genetics
  3. Pontocerebellar hypoplasia 
    Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  4. COQ8B gene 
    ... Smeets H. Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. Mitochondrion. 2010 Aug;10(5):510-5. doi: ...
    https://medlineplus.gov/genetics/gene/coq8b - Genetics
  5. Autosomal recessive cerebellar ataxia type 1 
    ... type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear ...
    https://medlineplus.gov/...osomal-recessive-cerebellar-ataxia-type-1 - Genetics
  6. Spinocerebellar ataxia type 36 
    ... SCA36.Brain imaging of people with SCA36 shows progressive atrophy of various parts of the brain, particularly within the cerebellum, which is the area of the brain involved ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-36 - Genetics
  7. TPP1 gene 
    ... to-side (oculomotor apraxia). People with SCAR7 have progressive loss of cells (atrophy) of various parts of the brain, particularly within the cerebellum, which is the area of the brain involved ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  8. Autosomal dominant optic atrophy and cataract 
    ... can lead to problems with balance and coordination (cerebellar ataxia), an unsteady ... Autosomal dominant optic atrophy and cataract is one form of autosomal dominant ...
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  9. Primary coenzyme Q10 deficiency 
    ... the brain that is involved in coordinating movement (cerebellum). Other ... caused by degeneration (atrophy) of the optic nerves or breakdown of the ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  10. Pol III-related leukodystrophy 
    ... part of the brain involved in coordinating movements (cerebellar atrophy) and underdevelopment (hypoplasia) of tissue that connects the ... TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Because ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
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