EVIDENCE FOR "UNER TAN SYNDROME" AS A HUMAN MODEL FOR REVERSE EVOLUTION [PDF]
, 2006 “Uner Tan Syndrome” was further studied in a second family. There was no cerebellar atrophy, except a mild vermial atrophy in MRI scans of the affected individuals. This is not, however, the pathogenesis of the “Uner Tan Syndrome”, since in the first and
Tan, Prof. Dr. Uner
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Cerebellar atrophy in neuroacanthocytosis [PDF]
BMJ Case Reports, 2014 We present the case of a 25-year-old man who had progressive generalised choreoathetosis, orofacial dyskinesia, feeding dystonia (jaw closure dystonia), lip biting and cervical dystonia (retrocollis) for the past 2 years. Over the past 6 months he has also had truncal and gait ataxia.
Chandramohan, Sharma +5 more
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Dissociation of structural and functional integrities of the motor system in amyotrophic lateral sclerosis and behavioral-variant frontotemporal dementia [PDF]
, 2016 Background and Purpose: This study investigated the structural and functional changes in the motor system in amyotrophic lateral sclerosis (ALS; n=25) and behavioral-variant fronto-temporal dementia (bvFTD; n=17) relative to healthy controls (n=37 ...
Bae, Jong Seok +9 more
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Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene [PDF]
Journal of Integrative Neuroscience, 2020 Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare.
Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
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Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis [PDF]
, 1999 Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense
Benninger, C. +4 more
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A Madras Motor Neuron Disease Patient With Cerebellar Atrophy: A New Clinical Feature
Frontiers in Neuroscience, 2018 A 34-year-old Chinese Han female complaining of general muscle weakness and wasting for 9 years. She was admitted for aggravation of her symptoms caused by respiratory distress. She also suffered from bulbar palsy.
Ling Long +8 more
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Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort [PDF]
Journal of Movement Disorders, 2017 Objective Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy ...
Ryuji Sakakibara +9 more
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The role of the cerebellum in unconsciuos and conscious processing of emotions: a review [PDF]
, 2017 Studies from the past three decades have demonstrated that there is cerebellar involvement in the emotional domain. Emotional processing in humans requires both unconscious and conscious mechanisms.
Clausi, Silvia +5 more
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Multiple system atrophy-cerebellar: A case report and literature review
Radiology Case Reports, 2023 We reported a case of a 48-year-old female patient admitted to the hospital due to balance disorder which progressed rapidly within 1 week. Cerebral magnetic resonance imaging showed significant atrophy and hyperintensities at the middle cerebellar ...
Thi Thuong Doan, MD +5 more
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The ‘Hot Cross Bun’ Sign Is Not Always Multiple System Atrophy: Etiologies of 11 Cases [PDF]
Journal of Movement Disorders, 2019 Objective To clarify the specificity of the ‘hot cross bun’ sign (HCBS) for multiple system atrophy (MSA) in adult cerebellar ataxia or parkinsonism. Methods The radiologic information systems at an academic center and affiliated veterans’ hospital were ...
Christopher Way +2 more
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