Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

Patrono, Clarice; Giacinto, G. Di; Eymard-Pierre, Éléonore; Santorelli, Filippo M.; Rodriguez, Diana; Stefano, Nicola De; Federico, Antonio; Gatti, Rosanna; Benigno, Vincenzo; Mégarbané, André; Tabarki, Brahim; Boespflug‐Tanguy, Odile; Bertini, Enrico

doi:10.1212/01.wnl.0000076184.21183.ca

Cited by 68 publications

(47 citation statements)

References 10 publications

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“…Approximately 40% of MLC patients experience a characteristic episode of acute motor disability with gradual improvement, which is known to occur even after falling without direct head injury, as ob-served in the present case (7). Furthermore, extrapyramidal movement disorders such as dystonia, athetosis, and tics have been reported in the advanced stage (5,(10)(11)(12).…”

Section: Discussionsupporting

confidence: 59%

A Japanese Adult Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts with a Good Long-term Prognosis

et al. 2012

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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently recognized neurological disease, and mutations in the MLC1 gene have been identified as the cause of the disorder. A 54-year-old Japanese woman with macrocephaly presented with progressive mental decline, gait disturbance due to spasticity and ataxia, and choreoathetotic movement in the left upper extremity. Brain magnetic resonance imaging (MRI) revealed characteristic subcortical cysts in addition to diffuse white matter involvement. Genetic analysis of the MLC1 gene identified an S93L mutation in a homozygous state. This case is particularly valuable because of the lack of knowledge on the long-term prognosis of MLC.

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Section: Discussionsupporting

confidence: 59%

A Japanese Adult Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts with a Good Long-term Prognosis

et al. 2012

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“…Cavitary white matter changes may be seen in megalencephalic leukoencephalopathy with subcortical cysts, Alexander disease, mitochondrial leukoencephalopathies, vanishing white matter disease (VWMD), leukoencephalopathy with calcifications and cysts, cytomegalovirus infection, and cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [7,8,9,10,11]. These diseases are mainly observed in young patients, and rare in adults (except CADASIL), in contrast to MS.…”

Section: Introductionmentioning

confidence: 99%

Clinical and Radiological Characteristics in Multiple Sclerosis Patients with Large Cavitary Lesions

Renard

Brochet²,

Vukusic

et al. 2012

Eur Neurol

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Background: Large cavitary lesions are not typical for multiple sclerosis (MS). Cavitary white matter changes may be seen in megalencephalic leukoencephalopathy with subcortical cysts, Alexander disease, mitochondrial leukoencephalopathies, vanishing white matter disease, leukoencephalopathy with calcifications and cysts, cytomegalovirus infection, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Objective: To analyze clinical and radiological characteristics in MS patients with large cavitary lesions. Methods: We studied MS patients with large cavitary brain lesions. Patient characteristics, disease onset/duration/subtype, expanded disability status scale (EDSS), Mini Mental State (MMS), corpus callosum lesions, history of segmental myelitis, CSF oligoclonal bands (OCB), visual evoked potentials (VEP), vanishing white matter disease genetic analysis, and characteristics of the cavitary lesions were analyzed. Results: Nine patients were analyzed, 1 man and 8 women. Mean age of disease onset was 38.5 years. Mean disease duration was 9 years. Three patients had initial relapsing-remitting MS and 6 patients had primary-progressive MS. Mean EDSS was 4.5. Mean MMS was 20/30. Segmental myelitis was present in 6 cases. OCB were found in 6 patients. VEP was performed in 6 patients, and pathological in all but one. Vanishing white matter disease genetic analysis was performed and negative in 5 patients. Inferior corpus callosum lesions were seen in all patients with available sagittal FLAIR sequences. Cavitary lesions were strictly supratentorial, and located inside the diffuse leukoencephalopathy, with often a posterior predominance. Conclusion: MS patients with large cavitary lesions seem to represent an MS subgroup, predominantly women, with relatively late disease onset, predominantly primary-progressive type, relatively high EDSS scores, and severe cognitive dysfunction.

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“…However, families unlinked to the MLC1 locus have been reported, 3 and the existence of at least one other locus has been hypothesized. 4,5 Chinese patients with genetic confirmative diagnosis of MLC have never been reported before. In this study, we analyzed 13 Chinese patients and identified 10 mutations, including seven novel mutations in MLC1.…”

Section: Introductionmentioning

confidence: 99%

Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)

Wang

Shang

et al. 2010

J Hum Genet

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Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

Cited by 68 publications

References 10 publications

A Japanese Adult Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts with a Good Long-term Prognosis

A Japanese Adult Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts with a Good Long-term Prognosis

Clinical and Radiological Characteristics in Multiple Sclerosis Patients with Large Cavitary Lesions

Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)

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