Homozygosity mapping of Marinesco–Sjögren syndrome to 5q31

Lagier‐Tourenne, Clotilde; Tranebjærg, Lisbeth; Chaigne, Denys; Gribaa, Moez; Dollfus, Hélène; Silvestri, Gabriella; Bétard, Christine; Warter, J; Kœnig, M.

doi:10.1038/sj.ejhg.5201068

Cited by 50 publications

(51 citation statements)

References 43 publications

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“…Family M13 has previously been described elsewhere. 1,19 The affected siblings, M1303 and M1304, show classical MSS with the exception of atrophy of pons detected in magnetic resonance imaging (MRI) in patient M1304. No consanguinity has been reported in families M7 and M13.…”

Section: Subjects and Clinical Investigationsmentioning

confidence: 99%

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome

et al. 2008

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Section: Subjects and Clinical Investigationsmentioning

confidence: 99%

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome

et al. 2008

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“…It has been suggested that MSS with myoglobinuria and congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndromes are genetically identical, as they both map to chromosome 18qter [176,177]. In contrast, a locus for classical MSS has recently been assigned to chromosome 5q31 and mutations have been identified in the SIL1 gene (encoding a factor involved in the proper protein folding) [178][179][180]. …”

Section: Marinesco-sjögren Syndromementioning

confidence: 99%

Autosomal recessive cerebellar ataxias

Manto¹

2010

Cerebellar Disorders

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“…Microcephaly, nystagmus, short stature, scoliosis, hypergonadotrophic hypogonadism and myopathy are common additional features 57,58 . Peripheral neuropathy, deafness, optic atrophy, strabismus, spasticity and seizures might be present 57 . Disease progression is slow and long survival can be expected 2 .…”

Section: Marinesco-sjögren Syndromementioning

confidence: 99%

“…Additional uncommon findings are cortical atrophy and leucoencephalopathy. Serum creatine kinase is usually elevated and muscle biopsy show chronic myopathy with rimmed subsarcolemmal vacuoles 57,58 .…”

Section: Marinesco-sjögren Syndromementioning

confidence: 99%

Autosomal recessive ataxias: 20 types, and counting

Embiruçu

Martyn

Schlesinger

et al. 2009

Arq. Neuro-Psiquiatr.

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-More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in Neurogenetics. Currently this group of diseases contains more than 20 clinical entities and an even larger number of associated genes. Some disorders are very rare, restricted to isolated populations, and others are found worldwide. An expressive number of recessive ataxias are treatable, and responsibility for an accurate diagnosis is high. The purpose of this review is to update the practitioner on clinical and pathophysiological aspects of these disorders and to present an algorithm to guide the diagnosis.KEY WORDS: autosomal recessive ataxias, cerebellar ataxia, cerebellum, Friedreich ataxia.Ataxias autossômicas recessivas: 20 tipos e muito mais resumo -Mais de 140 anos após a primeira descrição da ataxia de Friedreich, as ataxias autossômicas recessivas se transformaram em um dos mais complexos campos da Neurogenética. Atualmente, este grupo de doenças é composto por mais de 20 entidades clínicas e possui um número ainda maior de genes associados. Algumas doenças são muito raras, tendo sido observadas apenas em populações isoladas, enquanto que outras são encontradas no mundo todo. Um número expressivo de ataxias é tratável, e a responsabilidade em se fazer um diagnóstico correto é alta. A finalidade desta revisão é a de atualizar o neurologista a respeito dos principais aspectos clínicos e fisiopatológicos destas doenças e de apresentar um algoritmo para auxiliar a sua investigação e o seu diagnóstico.

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Homozygosity mapping of Marinesco–Sjögren syndrome to 5q31

Cited by 50 publications

References 43 publications

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome

Autosomal recessive cerebellar ataxias

Autosomal recessive ataxias: 20 types, and counting

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