Familial segmental spinal myoclonus: a rare clinical feature of Friedreich’s ataxia

@inproceedings{Jain2015FamilialSS,
  title={Familial segmental spinal myoclonus: a rare clinical feature of Friedreich’s ataxia},
  author={Rajendra Singh Jain and Sunil Kumar and Shankar Tejwani},
  booktitle={SpringerPlus},
  year={2015}
}
INTRODUCTION Friedreich's ataxia (FRDA) is the most common autosomal recessive inherited ataxia. It is characterized by onset before the age of 25 year, progressive limb and truncal ataxia, lower limb areflexia, extensor plantars, dysarthria and impaired posterior column sensations. Other important associated features are skeletal deformity, hypertrophic cardiomyopathy and diabetes mellitus. Most of the patients (98%) have an unstable homozygous trinucleotide (GAA) expansion in intron-1 of… CONTINUE READING
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Showing 1-10 of 18 references

Contracture liée à une irritation des cornes antérieures de la moelle dans un cas de syringomyélie

  • J Babinski
  • Rev Neurol
  • 1913
Highly Influential
3 Excerpts

Molecular diagnosis of Friedreich ataxia using analysis of GAA repeats and FXN gene exons in population from Western India

  • PD Potdar, A Raghu
  • Asian J Neurosci
  • 2013
2 Excerpts

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