Cognitive and neuroimaging profile of a Brazilian family with CADASIL

Silva, Júlio César Vasconcelos da; Gasparetto, Emerson L.; André, Charles

doi:10.1590/s0004-282x2011000400005

Cited by 7 publications

(10 citation statements)

References 23 publications

(24 reference statements)

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“…To our knowledge, the first case of CADASIL on the continent was described in Uruguay in 1999, (34) while subsequent cases have been reported in Argentina, (35,36) Colombia, (37) Brazil, (38) and Chile. (39) However, no cases have previously been described in Peru.…”

Section: Discussionmentioning

confidence: 99%

“…However, it is common on a global level as the predominant gene in Finnish families, (43) and is also present in Korean, (44) Japanese, (45) and Chinese (46) CADASIL-affected families. Amongst the South American cases that report the precise CADASIL-causing mutation, there is little overlap, with described mutations including R1031C, (47) R141C, (6) C455R, (37) R153C, (38) C251S, (34) and with this case, R133C. The variety of CADASIL-causing mutations in South America makes it less likely that these CADASIL cases are interconnected, and instead suggests the presence of multiple unrelated de novo mutations or founder’s effects on the continent.…”

Section: Discussionmentioning

confidence: 99%

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The first report of CADASIL in Peru: Olfactory dysfunction on initial presentation

Vishnevetsky

Inca‐Martinez²,

Milla-Neyra³

et al. 2016

eNeurologicalSci

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, heritable, small vessel vascular disease caused by mutations in the Notch3 gene that is characterized by migraines, subcortical vascular events, cognitive decline, and mood disturbances. However, many CADASIL cases present with unusual symptoms such as status epilepticus, a movement disorder, or sensory dysfunction. This study describes the clinical, genetic, and radiologic characteristics of a Peruvian family with CADASIL in which multiple family members presented with severe olfactory deficits. Seven members of the family have symptoms suggestive of CADASIL, with genetic testing revealing R133C mutations in the two patients who underwent genetic testing. Cognitive testing and olfactory identification testing (Smell Identification Test) were performed in three CADASIL patients revealing total anosmia in two tested patients and severe hyposmia in the other. Olfactory dysfunction has been associated with various neurologic and psychiatric conditions, though few studies have linked it with neurovascular disorders such as CADASIL. This first reported case of CADASIL in Peru emphasizes that symptomatic olfactory dysfunction may be an unusual presentation of CADASIL and that olfactory dysfunction is important to evaluate in CADASIL patients.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

The first report of CADASIL in Peru: Olfactory dysfunction on initial presentation

Vishnevetsky

Inca‐Martinez²,

Milla-Neyra³

et al. 2016

eNeurologicalSci

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“… 10 , 11 The present study describes the presence of these symptoms, similarly to a previous study. 7 …”

Section: Discussionmentioning

confidence: 99%

“…The sample was analyzed by transmission electron microscopy, which revealed slight thickening of the wall of arterioles; however no GOM bodies were visualized in arteriolar walls. Despite the negative result, the hypothesis of CADASIL was not rejected, and, in 2006, DNA and/or blood samples were sent to France, for genetic analyses, 7 as detailed in the Box .…”

Section: Case Reportmentioning

confidence: 99%

Cadasil - genetic and ultrastructural diagnosis: case report

Silva¹,

Chimelli²,

Sudo³

et al. 2015

Dement. neuropsychol.

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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary disorder which affects the cerebral vasculature due to mutations in the NOTCH 3 gene. The diagnosis may be established through genetic testing for detection of these mutations and/or by skin biopsy. We report a case of the disorder in a female patient, who presented recurrent transient ischemic attacks that evolved to progressive subcortical dementia. Neuroimaging disclosed extensive leukoaraiosis and lacunar infarcts. The genetic analysis for NOTCH 3 was confirmatory. The ultrastructural examination of the skin biopsy sample, initially negative, confirmed the presence of characteristic changes (presence of granular osmiophilic material inclusions [GOM]), after the analysis of new sections of the same specimen. The present findings indicate that negative findings on ultrastructural examinations of biopsy should not exclude the diagnosis of the disease and that further analyses of the sample may be necessary to detect the presence of GOM.

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“…Recently, these individuals were included in a study assessing cognitive and neuroimaging profile. 15 …”

Section: Case Reportmentioning

confidence: 99%

CADASIL: case report

Silva

Gasparetto

Engelhardt

2012

Dement. neuropsychol.

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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebral arteriopathy caused by mutations in the Notch-3 gene. The diagnosis is reached by skin biopsy revealing presence of granular osmiophílic material (GOM), and/or by genetic testing for Notch-3. We report a case of a 52-year-old man with recurrent transient ischemic attacks (TIA), migraine, in addition to progressive sensory, motor and cognitive impairment. He was submitted to a neuropsychological assessment with the CERAD (Consortium to Establish a Registry for Alzheimer's Disease) battery along with other tests, as well as neuroimaging and genetic analysis for Notch-3, confirming the diagnosis. Executive function, memory, language and important apraxic changes were found. Imaging studies suggested greater involvement in the frontal lobes and deep areas of the brain.

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Cognitive and neuroimaging profile of a Brazilian family with CADASIL

Cited by 7 publications

References 23 publications

The first report of CADASIL in Peru: Olfactory dysfunction on initial presentation

The first report of CADASIL in Peru: Olfactory dysfunction on initial presentation

Cadasil - genetic and ultrastructural diagnosis: case report

CADASIL: case report

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