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Results 1 - 10 of 27 for Abnormal central motor function
  1. DCTN1 gene 
    ... is unclear how this mutation causes distal hereditary motor neuronopathy ... activities and impair the function of axons in neurons.At least one DCTN1 ...
    https://medlineplus.gov/genetics/gene/dctn1 - Genetics
  2. C9orf72 gene 
    ... leads to the production of a protein with abnormal function that disrupts RNA and protein production in the cell, resulting in the formation of protein clumps (aggregates). In ALS, the large size of motor neurons is thought to make these cells vulnerable ...
    https://medlineplus.gov/genetics/gene/c9orf72 - Genetics
  3. SNCB gene 
    ... accumulation and the formation of Lewy bodies. These abnormal protein clusters are ... and motor function and the regulation of emotions, resulting in ...
    https://medlineplus.gov/genetics/gene/sncb - Genetics
  4. SNCA gene 
    ... production of an alpha-synuclein protein with an abnormal shape. The misshapen ... and motor function and the regulation of emotions, resulting in ...
    https://medlineplus.gov/genetics/gene/snca - Genetics
  5. CLN6 gene 
    ... found to cause CLN6 disease. This condition impairs motor and mental development, ... of an abnormal CLN6 protein that is quickly broken down (degraded). ...
    https://medlineplus.gov/genetics/gene/cln6 - Genetics
  6. GBA1 gene 
    ... of an altered lysosomal acid glucosylceramidase enzyme. This abnormal enzyme may ... and motor function and the regulation of emotions, resulting in ...
    https://medlineplus.gov/genetics/gene/gba1 - Genetics
  7. TUBB3 gene 
    ... involved. Abnormal growth of cranial nerves impairs the function of ... motor proteins from attaching to microtubules. These mutations typically ...
    https://medlineplus.gov/genetics/gene/tubb3 - Genetics
  8. VRK1 gene 
    ... protein prevents it from carrying out its usual functions, including regulating ... as a form of hereditary motor and sensory neuropathy (HMSN). HMSNs are a group ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics
  9. NOP56 gene 
    ... SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J ... hexanucleotide GGCCUG repeat expansion in spinocerebellar ataxia type ...
    https://medlineplus.gov/genetics/gene/nop56 - Genetics
  10. BSCL2 gene 
    ... Celia’s encephalopathy). This condition is characterized by abnormal brain function (encephalopathy) and intellectual disabilities that are apparent early ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
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