Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia
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چکیده
منابع مشابه
Adult Onset Sporadic Cerebellar Ataxia in Singapore: Diagnostic Outcomes of Paraneoplastic Antibody Testing and Early Clinical Features of Paraneoplastic Cerebellar Degeneration.
Dear Editor, The initial presentation of cerebellar ataxia remains a diagnostic challenge due to its multiple etiologies, one of which is paraneoplastic cerebellar degeneration (PCD), a rare neurological disease. Although paraneoplastic antibody testing may be helpful, seronegative PCD may account for up to 50% of PCD cases.1 The causes of ataxia in the Asian population differ from that of the ...
متن کاملAtaxia associated with Hashimoto's disease: progressive non-familial adult onset cerebellar degeneration with autoimmune thyroiditis.
UNLABELLED Acquired cerebellar ataxia has been described with hypothyroidism, and is typically reversible by thyroid hormone replacement therapy. The cerebellar dysfunction has been attributed to metabolic and physiological effects of the endocrine disorder. In a few patients, however, ataxia has persisted despite thyroid replacement therapy. Other mechanisms may be involved in ataxia associate...
متن کاملVery late-onset Friedreich ataxia despite large GAA triplet repeat expansions.
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...
متن کاملGait in patients with cerebellar ataxia.
The gait pattern in 10 patients with cerebellar degenerations was studied and the results were compared with 10 matched normal subjects, seeking the principal patterns in this disorder. Gait at natural speed was studied in a biomechanics laboratory using a video-based kinematic data acquisition system for measuring body movements. Patients showed a reduced step and stride length with a trend to...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2020
ISSN: 0022-3050,1468-330X
DOI: 10.1136/jnnp-2020-323998