Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations

Lee, Seung Tae; Choi, Ki-Whan; Yeo, Hyung-Tae; Kim, Jong-Won; Ki, Chang‐Seok; Cho, Young-Dae

doi:10.1016/j.jns.2007.10.018

Cited by 23 publications

(17 citation statements)

References 26 publications

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“…Less than 40 CCM3 families have been reported so far [Guclu et al, 2005;Verlaan et al, 2005;Denier et al, 2006;Gault et al, 2006;Liquori et al, 2006Liquori et al, , 2008Lee et al, 2008;Choe et al, 2010]. This limited number of CCM3 -mutated patients hampered the analysis of genotype-phenotype correlations.…”

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confidence: 99%

CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas

Riant¹,

Bergametti

Fournier

et al. 2013

Mol Syndromol

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Mutations of CCM3/PDCD10 cause 10-15% of hereditary cerebral cavernous malformations. The phenotypic characterization of CCM3-mutated patients has been hampered by the limited number of patients harboring a mutation in this gene. This is the first report on molecular and clinical features of a large cohort of CCM3 patients. Molecular screening for point mutations and deletions was used to identify 54 CCM3-mutated index patients. Age at referral and clinical onset, type of inaugural events and presence of extra-axial lesions were investigated in these 54 index patients and 22 of their mutated relatives. Mean age at clinical onset was 23.0 ± 16 years. Clinical onset occurred before 10 years in 26% of the patients, and cerebral hemorrhage was the initial presentation in 72% of these patients. Multiple extra-axial, dural-based lesions were detected in 7 unrelated patients. These lesions proved to be meningiomas in 3 patients who underwent neurosurgery and pathological examination. This ‘multiple meningiomas' phenotype is not associated with a specific CCM3 mutation. Hence, CCM3 mutations are associated with a high risk of early-onset cerebral hemorrhage and with the presence of multiple meningiomas.

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confidence: 99%

CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas

Riant¹,

Bergametti

Fournier

et al. 2013

Mol Syndromol

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“…Like cerebral cavernous malformations, spinal cord cavernomas tend to become clinically apparent during the third and fourth decades of life and women are slightly more affected. Reports of familial incidence and multiple localizations, involving both CNS and other organs, suggest the possibility of genetic mechanisms in the development of such lesions [17]. …”

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confidence: 99%

Thoracic spinal cord cavernous angioma: a case report and review of the literature

et al. 2014

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IntroductionCavernous angiomas of the spinal cord are rare vascular malformations, which account for approximately 5 to 12 percent of spinal cord vascular lesions. They usually originate in the vertebrae, with occasional extension into the extradural space, and intramedullary cavernomas, even if reported in the literature, are very rare.Case presentationWe report the case of a 34-year-old Caucasian woman affected by a thoracic intramedullary cavernous angioma. Our patient complained of 10-day history of acute dorsal pain, progressive weakness of both lower extremities, worse on the right side, a ‘pins and needles’ sensation in the abdominal region and bladder dysfunction. Magnetic resonance imaging showed, at D5 level, a vascular malformation, which was not documented at spinal angiography. Our patient underwent surgical treatment with total removal of the lesion and her symptoms gradually improved. A histological examination revealed the typical features of a cavernous angioma.ConclusionsIntramedullary cavernous angioma is a rare lesion that should be diagnosed early and surgically treated before rebleeding or enlargement of the lesion can occur.

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“…11 Dubovsky et al performed a linkage analysis in a large Hispanic-American family and found that the CCM1 gene linked to 7q11.2-12 was responsible for CCM. 12 This gene was later successfully cloned by Serebriiskii et al 13 The product of CCM1 is Krev interaction trapped-1 (KRIT1), which plays a central role in the regulation of vascular development.…”

Section: Discussionmentioning

confidence: 99%

A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family

Zhao

Xie

et al. 2011

Journal of Clinical Neuroscience

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Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations

Cited by 23 publications

References 26 publications

<b><i>CCM3</i></b> Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas

<b><i>CCM3</i></b> Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas

Thoracic spinal cord cavernous angioma: a case report and review of the literature

A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family

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