نتایج جستجو برای: cerebellar ataxia

تعداد نتایج: 40653  

2015
Kaveh Akbari Christine M. Fellner Daniel Flöry Franz A. Fellner

A 7-year-old boy presented with cerebellar ataxia with reduced tonicity, deficits of the fine and gross motor coordination skills and vestibular stimulus processing, as well as significantly delayed language development. MR imaging showed the so-called “molar tooth sign”, which was highly pathognomonic for the Joubert-Syndrome—an inherited cerebellar ataxia with a variety of clinical symptoms—a...

Journal: :Frontiers in Human Neuroscience 2023

The diagnosis and treatment of cerebellar atrophy remain challenging owing to its nonspecific symptoms laboratory indicators. Three patients with spinocerebellar ataxia type 8 caused by ATXN8OS were found among the 16 people in studied family. clinical manifestations included progressive spastic paraplegia lower extremities, mild ataxia, cognitive impairment, atrophy. After administering antisp...

2004
G J Breedveld B van Wetten J C van Swieten B A Oostra J A Maat-Kievit

T he cerebellar ataxias are a heterogeneous group of neurodegenerative disorders, characterised by symptoms and signs of cerebellar degeneration, pyramidal and extrapyramidal features, and variable polyneuropathy. Prominent clinical features are signs of cerebellar ataxia, such as uncoordinated gait and uncontrolled co-ordination of hand, speech, and eye movements, while (extra) pyramidal signs...

Journal: :Neurology 2021

A 20-year-old man presented with vertigo followed by hourly episodes of dysarthria and incoordination lasting 5–20 seconds (video 1). Neurologic examination was normal between episodes. The only brain/spine MRI lesion in the right superior cerebellar peduncle (figure, A). CSF analysis revealed elevated white blood cells (6/?L [normal, 0–5]) oligoclonal bands (?4). Paroxysmal dysarthria–ataxia a...

Journal: :The Medical journal of Malaysia 1980
C T Tan

An Indian family with four members having hereditary ataxia was presented. The inheritance was most likely autosomal dominant. The onset was at adult life. The main disability was cerebellar ataxia with pyramidal tract sign found at physical examination. Electroencephalography and nerve conduction study were abnormal in two cases where they were done. The clinical feature correspond to an inter...

2013
Shinsuke Fujioka Christina Sundal Zbigniew K Wszolek

Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and tremor. The onset of symptoms typically occurs in adulthood; however, a minority of patients develop clinical features in adolescence. The incidence of ADCA Type I...

2016
Rajveer Singh Dheeraj Khurana Sahil Mehta Aditya Choudhary Gayathri Petluri Vivek Lal

BACKGROUND Leptospirosis involves nervous system in around 10-15% of the cases, the commonest presentation being aseptic meningitis. Most of the clinical features of neuroleptospirosis are due to capillary endothelial damage and vasculitis. Ataxia is an extremely uncommon manifestation of Leptospirosis occuring in <5% of cases. CASE PRESENTATION A 28 year old female from North India presented...

Journal: :The Journal of clinical investigation 2004
Vikram G Shakkottai Chin-hua Chou Salvatore Oddo Claudia A Sailer Hans-Günther Knaus George A Gutman Michael E Barish Frank M LaFerla K George Chandy

Cerebellar ataxia, a devastating neurological disease, may be initiated by hyperexcitability of deep cerebellar nuclei (DCN) secondary to loss of inhibitory input from Purkinje neurons that frequently degenerate in this disease. This mechanism predicts that intrinsic DCN hyperexcitability would cause ataxia in the absence of upstream Purkinje degeneration. We report the generation of a transgen...

2015
Rebekah K. Jobling Mirna Assoum Oleksandr Gakh Susan Blaser Julian A. Raiman Cyril Mignot Emmanuel Roze Alexandra Dürr Alexis Brice Nicolas Lévy Chitra Prasad Tara Paton Andrew D. Paterson Nicole M. Roslin Christian R. Marshall Jean-Pierre Desvignes Nathalie Roëckel-Trevisiol Stephen W. Scherer Guy A. Rouleau André Mégarbané Grazia Isaya Valérie Delague Grace Yoon

Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile encephalopathies. We report the identification of mutations in PMPCA in 17 patients from four families affected with cerebellar ataxia, including the large Lebanese family previously described with autosomal recessive cerebellar ataxia and short stature of Norman type and localiz...

Journal: :Journal of neurology, neurosurgery, and psychiatry 2002
H Stolze S Klebe G Petersen J Raethjen R Wenzelburger K Witt G Deuschl

BACKGROUND Although gait disturbance is one of the most pronounced and disabling symptoms in cerebellar disease (CD), quantitative studies on this topic are rare. OBJECTIVES To characterise the typical clinical features of cerebellar gait and to analyse ataxia quantitatively. METHODS Twelve patients with various cerebellar disorders were compared with 12 age matched controls. Gait was analy...

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