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Keywords: Cerebellar ataxia
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Journal Articles
Case Rep Neurol (2024) 16 (1): 129–135.
Published Online: 03 May 2024
... dysmetria were observed. The pathogenic GFAP variant c.994G>A; p.(Glu332Lys) was found. MRI demonstrated spinal cord and medulla oblongata atrophy and hyperintensities at the cerebellum and cerebral white matter. Conclusion: External laryngeal, palatopharyngeal tremor and cerebellar ataxia constituted...
Journal Articles
Case Rep Neurol (2024) 16 (1): 55–62.
Published Online: 07 February 2024
...Ioannis Karafyllis; Jean-Marc Nuoffer; Joan-Philipp Michelis; Lara Chilver-Stainer Introduction: Identifying the underlying etiology of nonfamilial adult-onset progressive cerebellar ataxia is often challenging because neurologists must consider almost all nongenetic and genetic causes of ataxia...
Journal Articles
Journal Articles
Case Rep Neurol (2021) 13 (2): 414–421.
Published Online: 21 June 2021
...José Gazulla; Silvia Izquierdo-Alvarez; Emilio Ruiz-Fernández; José Berciano Cerebellar ataxia preceding the apparition of primary lateral sclerosis (PLS) is reported herein. Three individuals from 2 independent kindreds experienced ataxia before developing clinical signs of PLS. Disease onset...
Journal Articles
Case Rep Neurol (2019) 11 (2): 167–172.
Published Online: 08 May 2019
...Masaaki Nakamura; Masafumi Bekki; Youko Miura; Mina Itatani; Liu Xiao Jie Minamata disease (MD) is a form of intoxication involving the central nervous system and is caused by ingesting seafood from methylmercury-contaminated areas in Japan. In MD, cerebellar ataxia is a cardinal feature observed...
Journal Articles
Case Rep Neurol (2019) 10 (3): 297–301.
Published Online: 17 October 2018
...Fumihito Yoshii; Yuichi Tomori; Teruo Mori We present diffusion tensor tractography (DTT) findings in a case of hypertrophic olivary degeneration (HOD) and cerebellar ataxia. A 56-year-old man presented with abnormal ataxic gait and dysarthria. MRI 5 months after onset showed chronic pontine...
Journal Articles
Case Rep Neurol (2017) 8 (3): 218–223.
Published Online: 31 October 2016
...Jung-Min Pyun; Hyeyoung Park; Kyung Chul Moon; Beomseok Jeon Late-onset progressive cerebellar ataxia is a diagnostic challenge because of a poor correlation between genotype and phenotype, and a broad range of secondary causes that extend beyond the neurological field. We report the case of a 45...
Journal Articles
Case Rep Neurol (2014) 6 (3): 264–270.
Published Online: 26 November 2014
...Joseph Kuchling; Julia Shababi-Klein; Astrid Nümann; Lea M. Gerischer; Lutz Harms; Harald Prüss Background: Anti-glutamic acid decarboxylase antibody (GAD-ab)-associated cerebellar ataxia is a rare neurological disorder characterized by cerebellar symptoms concomitant with high GAD-ab levels...
Journal Articles