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MeSH Review

Apraxias

 
 
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Disease relevance of Apraxias

 

Psychiatry related information on Apraxias

 

High impact information on Apraxias

  • We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP) [11].
  • Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 [11].
  • Nephronophthisis can also be associated with conditions affecting extrarenal organs, such as retinitis pigmentosa (Senior-Løken syndrome) and ocular motor apraxia (Cogan syndrome) [12].
  • The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin [13].
  • Here, we report investigations of the entire coding region of FOXP2, including alternatively spliced exons, in 49 probands affected with verbal dyspraxia [14].
 

Chemical compound and disease context of Apraxias

  • Visuomotor apraxia has traditionally been assumed to result from a disconnection of cortico-cortical fibres between visual and motor areas following occipito-parietal lesions [15].
  • Seven patients, presenting CSWS associated with neuropsychological deterioration (isolated aphasia, three cases; language disturbances with more widespread cognitive deterioration, three cases; isolated apraxia, one case) were studied using PET with [18F]fluorodeoxyglucose (FDG) [16].
  • Isolated eyelid-opening apraxia: report of a new levodopa-responsive syndrome [17].
  • Using each cut-off score, the regional cerebral glucose metabolism of patients with CBD with apraxia (i.e., performing below cut-off score) was compared with that of patients with CBD without apraxia [18].
  • Reported is a 19-year-old manic-depressive patient who developed persistent dysarthria with coexisting apraxia while on a combination of high dose haloperidol and lithium carbonate [19].
 

Biological context of Apraxias

 

Anatomical context of Apraxias

 

Gene context of Apraxias

 

Analytical, diagnostic and therapeutic context of Apraxias

References

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  2. Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34. Németh, A.H., Bochukova, E., Dunne, E., Huson, S.M., Elston, J., Hannan, M.A., Jackson, M., Chapman, C.J., Taylor, A.M. Am. J. Hum. Genet. (2000) [Pubmed]
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  12. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Mollet, G., Salomon, R., Gribouval, O., Silbermann, F., Bacq, D., Landthaler, G., Milford, D., Nayir, A., Rizzoni, G., Antignac, C., Saunier, S. Nat. Genet. (2002) [Pubmed]
  13. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Moreira, M.C., Barbot, C., Tachi, N., Kozuka, N., Uchida, E., Gibson, T., Mendonça, P., Costa, M., Barros, J., Yanagisawa, T., Watanabe, M., Ikeda, Y., Aoki, M., Nagata, T., Coutinho, P., Sequeiros, J., Koenig, M. Nat. Genet. (2001) [Pubmed]
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