Lethal form of spinocerebellar ataxia type 7 with early onset in childhood - 12/01/18
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Abstract |
Progressive cerebellar ataxias are well-known hereditary neurological disorders. Among them, spinocerebellar ataxia type 7 (SCA7) is inherited as an autosomal dominant trait and is ascribed to the expansion of a CAG trinucleotide repeat within the ATXN7 gene. An anticipation phenomenon can occur during paternal transmission and sometimes is responsible for a severe infantile form. The specificity of SCA7 is the retinal involvement with retinitis pigmentosa and cone rod dystrophy. We describe a familial form with two siblings who died of a severe infantile form. Diagnosis was made in their father, who had a recent history of macular atrophy and presented with gait disturbance thereafter. Retrospectively, substantial triplet repeat expansion was confirmed in the two affected infants. These infantile forms are rare and difficult to diagnose in the absence of suggestive family symptoms.
Le texte complet de cet article est disponible en PDF.Keywords : Spinocerebellar ataxia type 7, SCA7, Progressive cerebellar ataxias, Neurological disorders, ATXN7 gene
Plan
Vol 25 - N° 1
P. 42-44 - janvier 2018 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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