Results 221 to 230 of about 15,463 (269)
In-vitro characterization of STUB1 mutations in recessively inherited spinocerebellar ataxia-16
, 2016 Yasaman Pakdaman
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2018
There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy (DRPLA) and highlight the clinical and genetic features of the well characterised SCAs in detail in the main section of the chapter, along with their frequency and age at ...
Bing-Wen, Soong, Patrick J, Morrison
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There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy (DRPLA) and highlight the clinical and genetic features of the well characterised SCAs in detail in the main section of the chapter, along with their frequency and age at ...
Bing-Wen, Soong, Patrick J, Morrison
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Neurological Sciences, 2008
Conventional MRI in patients presenting with progressive ataxia demonstrates the three main patterns of macroscopic damage, namely spinal atrophy, olivopontocerebellar atrophy and cortical cerebellar atrophy. Moreover it contributes to the diagnosis of fragile-X tremor ataxia syndrome and siderosis of the CNS.
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Conventional MRI in patients presenting with progressive ataxia demonstrates the three main patterns of macroscopic damage, namely spinal atrophy, olivopontocerebellar atrophy and cortical cerebellar atrophy. Moreover it contributes to the diagnosis of fragile-X tremor ataxia syndrome and siderosis of the CNS.
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Clinical Neuropharmacology, 2000
The spinocerebellar ataxias (SCAs) are diseases characterized by the progressive degeneration and subsequent loss of neurons accompanied by reactive gliosis, degeneration of fibers from the deteriorating neurons, and clinical symptoms reflecting the locations of the lost neurons.
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The spinocerebellar ataxias (SCAs) are diseases characterized by the progressive degeneration and subsequent loss of neurons accompanied by reactive gliosis, degeneration of fibers from the deteriorating neurons, and clinical symptoms reflecting the locations of the lost neurons.
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Spinocerebellar ataxia type 20
The Cerebellum, 2005Spinocerebellar ataxia type 20 (SCA20) was reported in 2004 in a single Australian Anglo-Celtic pedigree. The phenotype is distinctive, with palatal tremor, and hypermetric saccades, and early dentate (but not pallidal) calcification in the absence of abnormalities of calcium metabolism.
Elsdon, Storey +3 more
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Spinocerebellar ataxia type 12
2012SCA12 is a late-onset, autosomal dominant, slowly progressive disorder. Action tremor is the usual presenting sign. Subsequent development of ataxia and hyperreflexia suggests spinocerebellar ataxia. In the index SCA12 kindred, which resides in North America and is of German ancestry, parkinsonism, anxiety, depression, and cognitive dysfunction are not
Elizabeth, O'Hearn +2 more
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Spinocerebellar ataxia 7 (SCA7)
Cytogenetic and Genome Research, 2003Spinocerebellar ataxia 7 (SCA7) is a progressive autosomal dominant neurodegenerative disorder characterized clinically by cerebellar ataxia associated with progressive macular dystrophy. The disease affects primarily the cerebellum and the retina, but also many other CNS structures as the disease progresses.
A-S, Lebre, A, Brice
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