نتایج جستجو برای: cerebellar ataxia

تعداد نتایج: 40653  

Journal: :Pediatric Neurology Briefs 1994

Journal: :The Journal of Nervous and Mental Disease 1906

Journal: :Movement disorders : official journal of the Movement Disorder Society 2011
Ryu-ichiro Hashimoto Siddharth Srivastava Flora Tassone Randi J Hagerman Susan M Rivera

Older male premutation carriers of the FMR1 gene are associated with the risk of developing a late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome. Although previous postmortem and in vivo magnetic resonance imaging studies have indicated white matter pathology, the regional selectivity of abnormalities, as well as their relationship with molecular variables of the...

Journal: :Human molecular genetics 1997
C Jodice E Mantuano L Veneziano F Trettel G Sabbadini L Calandriello A Francia M Spadaro F Pierelli F Salvi R A Ophoff R R Frants M Frontali

Point mutations of the CACNA1A gene coding for the alpha 1A voltage-dependent calcium channel subunit are responsible for familial hemiplegic migraine (FHM) and episodic ataxia type 2 (EA2). In addition, expansions of the CAG repeat motif at the 3' end of the gene, smaller than those responsible for dynamic mutation disorders, were found in patients with a progressive spinocerebellar ataxia, na...

2012
Kaisa Kyöstilä Sigitas Cizinauskas Eija H. Seppälä Esko Suhonen Janis Jeserevics Antti Sukura Pernilla Syrjä Hannes Lohi

Inherited ataxias are characterized by degeneration of the cerebellar structures, which results in progressive motor incoordination. Hereditary ataxias occur in many species, including humans and dogs. Several mutations have been found in humans, but the genetic background has remained elusive in dogs. The Finnish Hound suffers from an early-onset progressive cerebellar ataxia. We have performe...

2016
Sergio Carmona Carlos Martínez Guillermo Zalazar Marcela Moro Angel Batuecas-Caletrio Leonel Luis Carlos Gordon

The head impulse, nystagmus type, test of skew (HINTS) protocol set a new paradigm to differentiate peripheral vestibular disease from stroke in patients with acute vestibular syndrome (AVS). The relationship between degree of truncal ataxia and stroke has not been systematically studied in patients with AVS. We studied a group of 114 patients who were admitted to a General Hospital due to AVS,...

Journal: :Pediatric Neurology Briefs 2013

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