Ataxia and Congenital Muscular Dystrophy: the follow-up of a new specific phenotype

Trevisan, Carlo P.; Pastorello, Ebe; Tonello, Simone; Armani, Mario; Rigoni, Maria Teresa; Tormene, A; Freda, Maria Pia; Zortea, Michela; Lombardi, Stefania

doi:10.1016/s0387-7604(01)00187-5

Cited by 11 publications

(5 citation statements)

References 35 publications

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“…Among the rare forms, we observed patients affected by AT, AVED, ataxia with cytochrome c deficiency and cerebellar ataxia with congenital muscular dystrophy, a peculiar type of autosomal recessive disorder recently identified by our group [22].…”

Section: Discussionmentioning

confidence: 85%

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Prevalence of Inherited Ataxias in the Province of Padua, Italy

Zortea

Armani²,

Pastorello³

et al. 2004

Neuroepidemiology

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Few population studies are available on epidemiological indexes of hereditary ataxias. An investigation on the prevalence rate of these movement disorders is in progress for the Veneto region, the main area of northeast Italy with a population of 4,490,586 inhabitants. The first results of this epidemiological survey concern the province of Padua, which numbers 845,203 residents (January 1, 2002). The prevalence rate of inherited ataxias has been estimated at 93.3 cases per million inhabitants. The most common types appeared to be the autosomal dominant forms, namely spinocerebellar ataxia type 1 and 2, with a prevalence of 24 per 1,000,000. In the same population, with a prevalence rate of 6 per 1,000,000, Friedreich’s ataxia was defined as the prominent recessive autosomal form. There were very rare cases of ataxia telangiectasia, ataxia with vitamin E deficiency and cerebellar ataxia with congenital muscular dystrophy, a recently identified autosomal recessive disease.

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Section: Discussionmentioning

confidence: 85%

“…Other forms of ataxia were diagnosed in 10 patients (12.7%) belonging to 9 families: 3 were affected by AT, 3 by AVED, 3 by ataxia with cytochrome c deficiency and 1 by ataxia with congenital muscular dystrophy, a recently identified cerebellar disorder associated with skeletal muscle degeneration [22].…”

Section: Resultsmentioning

confidence: 99%

Prevalence of Inherited Ataxias in the Province of Padua, Italy

Zortea

Armani²,

Pastorello³

et al. 2004

Neuroepidemiology

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“…These patients were screened for all known genes without molecular confirmation. Two of the 13 patients had adducted thumbs and cataracts while others had clear signs of cerebellar atrophy and have also been previously reported without gene identified [18,19]. …”

Section: Cognitive Assessment In the Cmdsmentioning

confidence: 63%

173rd ENMC international workshop: Congenital muscular dystrophy outcome measures 5–7 March 2010, Naarden, The Netherlands

Bönnemann

Rutkowski²,

Muntoni

2011

Neuromuscular Disorders

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“…Though unusual, CNS abnormalities do occur in this subtype. Recently, neurological abnormalities like microcephaly, mental retardation, epilepsy and white matter lucencies or changes resembling leukoencephalopathy, polymicrogyria, hypoplasia of the cerebellum or pons, cerebellar cysts and dilatation of ventricles have been described in association with MP CMD [10][11][12][13][14]. The intellectual handicap varies from mild to severe mental retardation.…”

Section: Discussionmentioning

confidence: 99%

Axonal involvement with white matter abnormalities in merosin-positive congenital muscular dystrophy: A new association

Shaharao¹,

Agarwal²,

Muranjan³

et al. 2015

J Pediatr Neurol

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An 18-month-old infant who presented with delayed motor development, hypotonia and absent deep tendon reflexes and normal cognitive development was diagnosed to have merosin-positive congenital muscular dystrophy (MP-CMD) on the basis of raised serum levels of creatine kinase, features suggestive of myopathy on electrophysiological studies, dystrophic muscle pathology and normal immunohistochemistry for merosin (laminin-?2). Neuroimaging studies demonstrated white matter hyperintensities on T2-weighted images similar to that seen in patients with merosin negative (MN-CMD). Electrophysiological studies also demonstrated features of axonal involvement. This finding has not been previously described in association with MP-CMD. Although we have not been able to exclude abnormal glycosylation of ?-dystroglycan, this case expands the clinical phenotype of MP-CMD and suggests that neuroimaging of children with CMD may be useful in the identification of variants of MP-CMD.

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Ataxia and Congenital Muscular Dystrophy: the follow-up of a new specific phenotype

Cited by 11 publications

References 35 publications

Prevalence of Inherited Ataxias in the Province of Padua, Italy

Prevalence of Inherited Ataxias in the Province of Padua, Italy

173rd ENMC international workshop: Congenital muscular dystrophy outcome measures 5–7 March 2010, Naarden, The Netherlands

Axonal involvement with white matter abnormalities in merosin-positive congenital muscular dystrophy: A new association

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