A family has been studied in which four sibs were affected with an adult-onset form of cerebellar ataxia and deafness. The ataxia and hearing loss have been slowly progressive over a 10 year follow-up period, and no other neurological signs have developed in the interim. This variety of ...
Sporadic adult-onset ataxia (SAOA) is a usually slowly progressive disorder that accounts for a considerable part of the neurodegenerative cerebellar diseases. Patients with SAOA suffer from a predominant cerebellar syndrome with ataxia of stance and gait, irregular limb movements, dysarthria, and ...
Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakne
West Nile virus presenting as opsoclonus-myoclonus cerebellar ataxia. Neurology. 2005;64(6):109515781844PubMedGoogle ScholarCrossref 53. Jung KY, Youn J, Chung CS. Opsoclonus-myoclonus syndrome in an adult with malignant melanoma. J Neurol. 2006;253(7):942-94316715202PubMedGoogle ScholarCross...
We studied a family including two half-siblings, sharing the same mother, affected by slowly progressive, adult-onset neurological syndromes. In spite of the diversity of the clinical features, characterized by a mild movement disorder with cognitive impairment in the elder patient, and severe motor...
SETX mutations are a frequent genetic cause of juvenile and adult onset;cerebellar ataxia with neuropathy and elevated serum alpha-fetoproteinSETX mutations are a frequent genetic cause of juvenile and adult onset;cerebellar ataxia with neuropathy and elevated serum alpha-fetoproteinAOA2Ataxia...
Adult‐onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation 来自 NCBI 喜欢 0 阅读量: 7 作者:MH Martikainen,GS Gorman,P Goldsmith,DJ Burn,DM Turnbull,AM Schaefer 摘要:Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation...
Our findings support CLN5 hypomorphic mutations cause autosomal recessive cerebellar ataxia, confirming other reports showing CLN mutations are associated with adult-onset neurodegenerative disorders. We suggest CLN genes should be considered in the molecular analyses of patients presenting with adult-onset ...
Neurological histories were unrevealing until the onset of behavioral and cognitive symptoms as young adults including parkinsonism, cerebellar ataxia, and profound cerebral and spinal atrophy. Both patients had abnormal glycosylation profiles consistent with type I CDG and both had EBV viremia.Conclusions...
cerebellar stroke stroke stroke in young stroke of unknown etiology ADVERTISEMENT Further Reading Views of the Public and Healthcare Professionals on Newborn Screening for Spinal Muscular Atrophy and the Potential for Detecting Adult-Onset Types in Patients-in-Waiting in Hong Kong ...