Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) was first reported in European families and since 1993 it has been observed in America, Africa and Asia, suggesting that today the disease probably still remains largely underdiagnosed. CADASIL appears to be essentially a disorder of the arteries linked to single missense mutations in the Notch3 gene locus on chromosome 19; the aberrant dimerisation of Notch3, due to abnormal disulphide bridging with another Notch3 molecule or with another protein, may be involved in the pathogenesis of the disorder. It is characterized by recurrent stroke episodes and focal neurologic deficits progressing to pseudobulbar palsy and dementia, caused by multiple lacunar infarctions with ischemic and diffuse white matter abnormalities on neuroimaging. Migraine with aura, epileptic seizures and affective disorders are frequent additional symptoms of CADASIL. It is usually observed in the 3rd decade, but some individuals remain asymptomatic close to the age of 60.MRI displays a marked leukoencephalopathy in affected individuals as early as in the age of 20. The authors emphasize the role of a direct DNA test for gene mutation to make a differential diagnosis between CADASIL and other forms of vascular leukoencephalopathy as Alzheimer's dementia, multiple sclerosis and Binswanger's subcortical arteriopathic encephalopathy where CADASIL's arteriopathy is characterized by major alterations of vascular smooth muscle cells and the presence of specific granular osmiophilic deposits.
| Original language | Italian |
|---|---|
| Pages (from-to) | 381-384 |
| Number of pages | 4 |
| Journal | Minerva Medica |
| Volume | 92 |
| Issue number | 5 |
| Publication status | Published - 2001 |
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ASJC Scopus subject areas
- Medicine(all)
Cite this
Arteriopatia cerebrale autosomica dominante con infarti sottocorticali e leucoencefalopatia (CADASIL) : Descrizione di due casi. / Pellicanò, S.; Costa, Alfredo; Terra, L.
In: Minerva Medica, Vol. 92, No. 5, 2001, p. 381-384.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Arteriopatia cerebrale autosomica dominante con infarti sottocorticali e leucoencefalopatia (CADASIL)
T2 - Descrizione di due casi
AU - Pellicanò, S.
AU - Costa, Alfredo
AU - Terra, L.
PY - 2001
Y1 - 2001
N2 - Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) was first reported in European families and since 1993 it has been observed in America, Africa and Asia, suggesting that today the disease probably still remains largely underdiagnosed. CADASIL appears to be essentially a disorder of the arteries linked to single missense mutations in the Notch3 gene locus on chromosome 19; the aberrant dimerisation of Notch3, due to abnormal disulphide bridging with another Notch3 molecule or with another protein, may be involved in the pathogenesis of the disorder. It is characterized by recurrent stroke episodes and focal neurologic deficits progressing to pseudobulbar palsy and dementia, caused by multiple lacunar infarctions with ischemic and diffuse white matter abnormalities on neuroimaging. Migraine with aura, epileptic seizures and affective disorders are frequent additional symptoms of CADASIL. It is usually observed in the 3rd decade, but some individuals remain asymptomatic close to the age of 60.MRI displays a marked leukoencephalopathy in affected individuals as early as in the age of 20. The authors emphasize the role of a direct DNA test for gene mutation to make a differential diagnosis between CADASIL and other forms of vascular leukoencephalopathy as Alzheimer's dementia, multiple sclerosis and Binswanger's subcortical arteriopathic encephalopathy where CADASIL's arteriopathy is characterized by major alterations of vascular smooth muscle cells and the presence of specific granular osmiophilic deposits.
AB - Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) was first reported in European families and since 1993 it has been observed in America, Africa and Asia, suggesting that today the disease probably still remains largely underdiagnosed. CADASIL appears to be essentially a disorder of the arteries linked to single missense mutations in the Notch3 gene locus on chromosome 19; the aberrant dimerisation of Notch3, due to abnormal disulphide bridging with another Notch3 molecule or with another protein, may be involved in the pathogenesis of the disorder. It is characterized by recurrent stroke episodes and focal neurologic deficits progressing to pseudobulbar palsy and dementia, caused by multiple lacunar infarctions with ischemic and diffuse white matter abnormalities on neuroimaging. Migraine with aura, epileptic seizures and affective disorders are frequent additional symptoms of CADASIL. It is usually observed in the 3rd decade, but some individuals remain asymptomatic close to the age of 60.MRI displays a marked leukoencephalopathy in affected individuals as early as in the age of 20. The authors emphasize the role of a direct DNA test for gene mutation to make a differential diagnosis between CADASIL and other forms of vascular leukoencephalopathy as Alzheimer's dementia, multiple sclerosis and Binswanger's subcortical arteriopathic encephalopathy where CADASIL's arteriopathy is characterized by major alterations of vascular smooth muscle cells and the presence of specific granular osmiophilic deposits.
KW - Cerebral infarction
KW - Diagnosis - Cerebral infarction
KW - Diagnosis - Genes
KW - Dominant
KW - Genetics - Dementia
KW - Multi infarct
UR - http://www.scopus.com/inward/record.url?scp=84992238838&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84992238838&partnerID=8YFLogxK
M3 - Articolo
VL - 92
SP - 381
EP - 384
JO - Minerva Medicolegale e Archivio di Antropologia Criminale
JF - Minerva Medicolegale e Archivio di Antropologia Criminale
SN - 0026-4806
IS - 5
ER -