Nikolaus friedreich biography of alberta

  • Once upon a time, there was a little boy named Nicholas.
  • Friedreich's ataxia (FRDA), first described by Nikolaus Friedreich in 1863, is an autosomal recessive disease in which patients develop.
  • Nikolaus Friedreich in 1863, is an autosomal recessive disease in which patients develop progressive ataxia involving immobility, lack of manual dexterity.

    • •

    Nick

    Once upon a time, there was a little boy named Nicholas. He was a cheerful young boy with shiny red hair. He loved to go to the park and have his Mommy push him on the swing. Some of the slides were too tall for him, but others were fun to climb up and slide down. When he was 3 years old, he was happy to discover that he was getting a baby sister! He helped his Mommy look after her with love and attention. He enjoyed helping push her on the swings at the park; they shared the same stroller on their walks to and from their favorite park.

    Nicholas grew up quickly – as all little children do! Before his parents knew it, he was starting kindergarten. Mommy took a picture of him as he headed out the door on that first day. (She took pictures of him almost every year when school started!) Nick loved kindergarten! His school was a wonderful old building with only enough space inside for the kindergarten students! They had a room for their “cubbies,” with a colorful mat f

  • nikolaus friedreich biography of alberta

    • •

    Autosomal Dominant Spinocerebellar Ataxias and Episodic Ataxias

  • Abele M, Burk K, Andres F, Topka H, Laccone F, Bosch S et al (1997) Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. Brain 120:2141–2148

    ArticlePubMed Google Scholar

  • Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T et al (2008) Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. J Biol Chem 283:19854–19863

    ArticlePubMedCAS Google Scholar

  • Amino T, Ishikawa K, Toru S, Ishiguro T, Sato N, Tsunemi T et al (2007) Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. J Hum Genet 52:643–649

    ArticlePubMedCAS Google Scholar

  • Armstrong J, Bonaventura I, Rojo A, Gonzalez G, Corral J, Nadal N et al (2005) Spinocerebellar ataxia type 2 (SCA2) with white matter involvement. Neurosci Lett 381:247–251

    ArticlePubMedC

    •

    Abstract

    Background: Patients with suspected genetic ataxia are often tested for Friedreich's ataxia (FRDA) and/or a variety of spinocerebellar ataxias (SCAs). FRDA can present with atypical, late-onset forms and so may be missed in the diagnostic process. We aimed to determine FRDA-positive subjects among two cohorts of patients referred to a expert ataxia centre either for FRDA or SCA testing to determine the proportion of FRDA cases missed in the diagnostic screening process.

    Methods: 2000 SCA-negative ataxia patients, not previously referred for FRDA testing (group A), were tested for FRDA expansions and mutations. This group was compared with 1768 ataxia patients who had been previously referred for FRDA testing (group B) and were therefore more likely to have a typical framställning. The phenotypes of positiv cases were assessed through review of the clinical case notes.

    Results: Three patients (0.2%) in group A had the FRDA expansion on both alleles, compared wit