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Results 1 - 10 of 16 for Inherited neurodegenerative disorder
  1. Aceruloplasminemia 
    ... Gathinji M, Fuchs R, Harris ZL. Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis. Ann N Y ...
    https://medlineplus.gov/genetics/condition/aceruloplasminemia - Genetics
  2. CLN2 disease 
    ... in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am J Hum Genet. 1999 Jun;64(6):1511-23. doi: 10.1086/302427. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/cln2-disease - Genetics
  3. Neuroferritinopathy 
    ... Levi S, Cozzi A, Arosio P. Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation. Best Pract Res ... accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light ...
    https://medlineplus.gov/genetics/condition/neuroferritinopathy - Genetics
  4. Congenital mirror movement disorder 
    ... also develop later in life in people with neurodegenerative disorders such as Parkinson's disease. Mirror movements may ... DCC NTN1 RAD51 Congenital mirror movement disorder is inherited in an autosomal dominant pattern, which means one ...
    https://medlineplus.gov/.../congenital-mirror-movement-disorder - Genetics
  5. Cerebral folate transport deficiency 
    ... defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum ...
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  6. CLN10 disease 
    ... Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet. 2006 Jun;78(6): ...
    https://medlineplus.gov/genetics/condition/cln10-disease - Genetics
  7. Infantile neuroaxonal dystrophy 
    ... PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet. 2006 Jul; ...
    https://medlineplus.gov/.../infantile-neuroaxonal-dystrophy - Genetics
  8. Prion disease 
    ... 5. Citation on PubMed Prusiner SB. Shattuck lecture--neurodegenerative diseases and prions. N Engl J Med. 2001 May ...
    https://medlineplus.gov/genetics/condition/prion-disease - Genetics
  9. Spinocerebellar ataxia type 1 
    ... Orr HT. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem. 2009 ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-1 - Genetics
  10. Ataxia-telangiectasia 
    Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating ...
    https://medlineplus.gov/genetics/condition/ataxia-telangiectasia - Genetics
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