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Department of Neurology

Houston, Texas

BCM neurologists see patients through the Baylor Clinic and some of the world's leading specialty clinics.
Department of Neurology
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Test Yourself — Patient #25

Friedreich's Ataxia

  1. All of the following are typically seen in Friedreich's Ataxia EXCEPT:

    gluteal weakness
    peripheral neuropathy
    extensor plantar responses
    ophthalmoplegia
    limb and trunk ataxia

  2. Systemic abnormalities that frequently accompany Friedreich's ataxia include all of the following EXCEPT:

    diabetes mellitus
    thyrotoxicoxis
    dilated cardiomyopathy
    scoliosis
    pes cavus

  3. Identified causes of Friedreich's ataxia include:

    a slow virus infection
    a CAG triplet repeat expansion in the second exon of the frataxin gene
    point mutations in the frataxin gene
    an unstable GAA repeat in the first intron of the frataxin gene
    C and D
    All of the above

  4. Regarding Friedreich's ataxia, all of the following are true EXCEPT:

    The defect responsible for Friedreich's ataxia causes a loss of gene function
    Friedreich's ataxia follows an autosomal recessive pattern
    In all triplet repeat expansion diseases the size of the expanded repeat is inversely related to age of onset and disease severity
    The gene defect responsible for Friedreich's ataxia causes an additional copy of the frataxin gene to be expressed
    Frataxin is thought to regulate iron homeostasis in mitochondria

  5. All of the following cause chronic, progressive cerebellar ataxia EXCEPT:

    Abetalipoproteinemia
    Ramsay Hunt syndrome
    Maple syrup urine disease
    Friedreich's ataxia
    Riley-Day syndrome

 

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