CANVAS: A very late onset cerebellar ataxia, due to biallelic expansions in the RFC1 gene
نویسندگان
چکیده
منابع مشابه
Idiopathic very late-onset cerebellar ataxia: a Brazilian case series.
UNLABELLED The authors present a Brazilian case series of eight patients with idiopathic very-late onset (mean 75.5 years old) cerebellar ataxia, featuring predominantly gait ataxia, associated with cerebellar atrophy. METHOD 26 adult patients with a diagnosis of idiopathic late onset cerebellar ataxia were analyzed in a Brazilian ataxia outpatient clinic and followed regularly over 20 years....
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BACKGROUND Most patients with Friedreich ataxia (FRDA) have abnormal GAA triplet repeat expansions in both X25 genes. The size of the GAA expansion in the shorter of the 2 expanded alleles correlates significantly with parameters of clinical severity and is inversely related to the age at onset. OBJECTIVES To describe the clinical and molecular genetic findings in a patient with very late-ons...
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Following four recurrent bleedings of a mesencephalic cavernoma within 10 years (figure 1A), a 62-year-old woman demonstrated left kinetic cerebellar syndrome. She then developed oculopalatal tremor (OPT) associated with bilateral inferior olive hyperintensity (figure 1B). Gamma knife radiation was performed, but she developed severe cerebellar ataxia. OPT secondary to brainstem strokes and ass...
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Background Late onset sepsis is a frequent complication of prematurity, associated with increased mortality and morbidity. Probiotics may prevent late onset sepsis in premature infants. The aim of this study was to determine prophylactic effect of oral probiotics in prevention of late onset sepsis of very preterm infants. Materials and Methods This study was a randomized, double blinded, placeb...
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Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion in intron 1 of the frataxin gene (FXN) on chromosome 9q13-q21.1. Ons...
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ژورنال
عنوان ژورنال: Revue Neurologique
سال: 2019
ISSN: 0035-3787
DOI: 10.1016/j.neurol.2019.05.002