asmi
Forum Hero
Topics: 1043
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Can anybody tell me where is the defect in this disease and what tracts r involved ?
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| astro
Forum Newbie
Topics: 6
Posts: 18
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Caused by B12 deficiency - the defect is in the posterior columns, spinocerebellar tracts and corticospinal tracts i think.
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| asmi
Forum Hero
Topics: 1043
Posts: 4,609
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the cause is not correct.
Its an AR disease , defect in frataxin protein,thought to be involved in iron metabolism .The symptoms resemble B12 def(subacute combined degenration)
:arrow: these pts need to be monitored for diabetes and heart dieases.
If anybody can add points :idea:
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| Gul
Forum Elite
Topics: 9
Posts: 259
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Additional things that can be present:
Foot abnormalities
Kyphoscoliosis
sick sinus syndrome
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| piter
Forum Elite
Topics: 34
Posts: 191
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Affect spinocerebellar tract - ataxia of gait is the most common initial symptom of this disease.
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| rida
Forum Guru
Topics: 109
Posts: 721
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Friedreichs ataxia is the most common autosomal recessive, congenital ataxia. The brain shows diffuse neuronal loss involving dorsal columns, dentate nuclei, and spinocerebellar tract. These patients commonly have diabetes and heart disease, just like asmi said.
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| pathfinder1000
Forum Newbie
Topics: 0
Posts: 4
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casued by defective alpha tocopherol transfer protein gene leading to deficiency of Vit E >>> oxidative dmamge to neurons. Clinically presents with cerebellar signs and post. column signs.
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