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  • Title: Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.
    Author: Duquette A, Brais B, Bouchard JP, Mathieu J.
    Journal: Mov Disord; 2013 Dec; 28(14):2011-4. PubMed ID: 23913799.
    Abstract:
    BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an increasingly recognized form of spastic ataxia worldwide, but early diagnosis remains a challenge. METHODS: We reviewed the initial presentation (n = 40) and early clinical evolution (n = 50) of a large ARSACS cohort that was followed at the Saguenay Neuromuscular clinic. RESULTS: The average age at presentation was 3.41 ± 1.55 years. Increased deep tendon reflexes were more common than spasticity initially, and the neuropathy only became apparent clinically in the second decade. Despite a homogeneous genetic background, some patients showed no signs of neuropathy or spasticity by the age of 18 years. CONCLUSIONS: At presentation, ARSACS lacks certain features that are considered typical in adults after years of evolution. Considering that ARSACS is probably under-diagnosed, it should be included in the differential diagnosis of early onset ataxias with or without pyramidal features and is worthwhile to consider in older patients, even when some features are absent.
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