RFC1-related ataxia is a mimic of early multiple system atrophy
نویسندگان
چکیده
منابع مشابه
Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability.
UNLABELLED Neuronal atrophy in neurodegenerative diseases is commonly viewed as an early event in a continuum that ultimately results in neuronal loss. In a mouse model of the polyglutamine disorder spinocerebellar ataxia type 1 (SCA1), we tested the hypothesis that cerebellar Purkinje neuron atrophy serves an adaptive role rather than being simply a nonspecific response to injury. In acute cer...
متن کاملPreliminary Study of Intravenous Amantadine Treatment for Ataxia Management in Patients with Probable Multiple System Atrophy with Predominant Cerebellar Ataxia
BACKGROUND AND PURPOSE Multiple system atrophy with predominant cerebellar ataxia is a disabling neurologic disease. However, effective management has not yet been established. We conducted a short-term, open-label preliminary study to assess the benefits of intravenous amantadine treatment in patients with probable multiple system atrophy with predominant cerebellar ataxia. METHODS Twenty pa...
متن کاملMultiple system atrophy.
Multiple system atrophy (MSA) is an adult-onset sporadic progressive neurodegenerative disorder of unknown etiology. It is clinically characterized by the variable combination of autonomic failure, parkinsonism, cerebellar ataxia, and pyramidal signs. The present review summarizes up-to-date knowledge on the clinical diagnosis and molecular pathology of MSA. We also review the role of additiona...
متن کاملMultiple system atrophy.
Multiple system atrophy is a neurological disorder that has gone unrecognized for too long due to its involvement across multiple regions of the central nervous system. This disorder is finally being unveiled through increased reporting in the scientific literature. Further research will enhance our understanding of this disease and lead to more effective treatment regimens as well as an improv...
متن کاملSphincter EMG for Diagnosing Multiple System Atrophy and Related Disorders
One of the hallmarks in the pathology of multiple system atrophy (MSA) is neuronal loss in the sacral Onuf’s nucleus11,33,37. Onuf’s nucleus plays a key role in urinary and fecal continence12. Neurons in this nucleus receive not only cortical inputs, but also noradrenergic and serotonergic facilitatory inputs via interneurons from various brainstem structures, including the pontine urine-storag...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2021
ISSN: 0022-3050,1468-330X
DOI: 10.1136/jnnp-2020-325092