Friedreich's ataxia
Autosomal recessive disorder caused by trinucleotide (GAA) repeats that, unlike those in Huntington\'s chorea and fragile X syndrome, are within an intron of the gene 25 that codes for frataxin, the protein deficient in the disease. The intra-intronic repeat may interfere with hnRNA processing and thus lead to a deficiency in frataxin production.

Dictionary of molecular biology. 2004.

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  • Friedreich's ataxia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 4980 ICD10 = ICD10|G|11|1|g|10 ICD9 = ICD9|334.0 ICDO = OMIM = 229300 MedlinePlus = eMedicineSubj = neuro eMedicineTopic = 139 MeshID = D005621 Friedreich s ataxia is an inherited disease… …   Wikipedia

  • Friedreich's ataxia — noun sclerosis of the posterior and lateral columns of the spinal cord; characterized by muscular weakness and abnormal gait; occurs in children • Syn: ↑herediatry spinal ataxia • Hypernyms: ↑ataxia, ↑ataxy, ↑dyssynergia, ↑motor ataxia * * *… …   Useful english dictionary

  • Friedreich's ataxia — Fried·reich s ataxia frēd rīks , frēt rīks n a recessive hereditary degenerative disease affecting the spinal column, cerebellum, and medulla, marked by muscular incoordination and twitching, and usu. becoming manifest in the adult Friedreich… …   Medical dictionary

  • Friedreich's ataxia — see ataxia [N. Friedreich (1825–82), German neurologist] …   The new mediacal dictionary

  • Атаксия Фридрейха (Friedreich'S Ataxia) — см. Атаксия. Источник: Медицинский словарь …   Медицинские термины

  • friedreich's disease — noun see friedreich s ataxia …   Useful english dictionary

  • Ataxia (disambiguation) — Ataxia can mean: *Ataxia, is unsteady and clumsy motion of the limbs or trunk due to a failure of the gross coordination of muscle movements. This includes cerebellar , sensory , and vestibular ataxia. The word ataxia is also part of the name of… …   Wikipedia

  • Friedreich-Ataxie — Klassifikation nach ICD 10 G11.1 Früh beginnende zerebellare Ataxie Friedreich Ataxie (autosomal rezessiv) …   Deutsch Wikipedia

  • Ataxia — Wobbliness. Ataxia is incoordination and unsteadiness due to the brain’s failure to regulate the body’s posture and regulate the strength and direction of limb movements. Ataxia is usually a consequence of disease in the brain,… …   Medical dictionary

  • Ataxia — For other uses, see Ataxia (disambiguation). Ataxia (from Greek α [used as a negative prefix] + τάξις [order], meaning lack of order ) is a neurological sign and symptom that consists of gross lack of coordination of muscle movements. Ataxia is a …   Wikipedia

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