نتایج جستجو برای: cerebellar ataxia

تعداد نتایج: 40653  

Journal: :Pediatric Neurology Briefs 1999

Journal: :Postgraduate Medical Journal 1992

Journal: :Neurology 2013
L Benjamin Hills Amira Masri Kotaro Konno Wataru Kakegawa Anh-Thu N Lam Elizabeth Lim-Melia Nandini Chandy R Sean Hill Jennifer N Partlow Muna Al-Saffar Ramzi Nasir Joan M Stoler A James Barkovich Masahiko Watanabe Michisuke Yuzaki Ganeshwaran H Mochida

OBJECTIVE To identify the genetic cause of a syndrome causing cerebellar ataxia and eye movement abnormalities. METHODS We identified 2 families with cerebellar ataxia, eye movement abnormalities, and global developmental delay. We performed genetic analyses including single nucleotide polymorphism genotyping, linkage analysis, array comparative genomic hybridization, quantitative PCR, and Sa...

Journal: :Journal of neurophysiology 1993
M Gorassini A Prochazka J L Taylor

1. The cerebellum has long been known to participate in movement control. One of the enduring theories of cerebellar function is that it "tunes" and coordinates sensorimotor traffic in other parts of the CNS. In particular, it has been implicated in the control of the sensitivity of muscle spindle stretch receptors through the fusimotor system. 2. The stretch sensitivity of spindle primary endi...

Journal: :BMC Ophthalmology 2021

Abstract Background Cogan’s anterior internuclear ophthalmoplegia (INO) is characterized by INO with inability to converge and commonly thought be due rostral midbrain lesion. A lesion outside that causes unilateral combined upgaze palsy ataxia are rarely described. Case presentation 67-year old male presented left (INO), appendicular bilateral palsy. Magnetic Resonance Imaging (MRI) Angiograph...

Journal: :Parkinsonism & related disorders 2014
Klas Wictorin Björn Brådvik Karin Nilsson Maria Soller Danielle van Westen Gunnel Bynke Peter Bauer Ludger Schöls Andreas Puschmann

BACKGROUND We describe the clinical characteristics of a Swedish family with autosomal dominant cerebellar ataxia, sensory and autonomic neuropathy, additional neurological features and unknown genetic cause. METHODS Fourteen affected family members were identified. Their disorder was characterized by neurological examination, MRI, electroneurography, electromyography, MIBG-scintigraphy, and ...

Journal: :Lancet 2014
Marie-France Kong Gérald Glibert Felicia Baleanu Rafik Karmali

In October, 2012, a 37-year-old Rwandan businessman was transferred to our hospital from Nairobi, Kenya, where he had been investigated for subacute onset of progressive cerebellar ataxia and quadriparesis of unclear cause. He presented initially to a hospital in Nairobi in August, 2012, with a 2–3 week history of imbalance and weakness, as well as back pain and stiff ness, without cognitive or...

2010
Oh Dae Kwon Chang-Seok Ki

The cerebellar glucose metabolism of multiple system atrophy with predominant cerebellar ataxia (MSA-C) is known to be decreased but is not defined among areas of cerebellum. We encountered a 54-year-old man who developed dizziness and progressive ataxia followed by urinary incontinence and orthostatic hypotension, all of those symptoms progressed relentlessly and the symptoms responded poorly ...

Journal: :JAMA neurology 2014
Brent L Fogel Hane Lee Joshua L Deignan Samuel P Strom Sibel Kantarci Xizhe Wang Fabiola Quintero-Rivera Eric Vilain Wayne W Grody Susan Perlman Daniel H Geschwind Stanley F Nelson

IMPORTANCE Cerebellar ataxias are a diverse collection of neurologic disorders with causes ranging from common acquired etiologies to rare genetic conditions. Numerous genetic disorders have been associated with chronic progressive ataxia and this consequently presents a diagnostic challenge for the clinician regarding how to approach and prioritize genetic testing in patients with such clinica...

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