About: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy     Goto   Sponge   NotDistinct   Permalink

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Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is disease of the arteries in the brain, which causes tissue loss in the subcortical region of the brain and the destruction of myelin in the CNS. CARASIL is characterized by symptoms such as gait disturbances, hair loss, low back pain, dementia, and stroke. CARASIL is a rare disease, having only been diagnosed in about 50 patients, of which ten have been genetically confirmed. Most cases have been reported in Japan, but Chinese and caucasian individuals have also been diagnosed with the disease. CARASIL is inherited in an autosomal recessive pattern. There is currently no cure for CARASIL. Other names for CARASIL include familial young-adult-onset arteriosclerotic leukoencephalopathy with

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  • CARASIL (de)
  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (en)
  • CARASIL (fr)
  • CARASIL (it)
rdfs:comment
  • Le CARASIL, acronyme pour l'anglais : Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, est une maladie génétique due à une mutation du gène , avec perte de fonction. (fr)
  • CARASIL, Akronym für Cerebral Autosomal-Rezessive Arteriopathie mit Subcorticalen Infarkten und Leukenzephalopathie, ist eine sehr seltene angeborene Erkrankung der kleinen Hirngefäße mit Gangstörungen, vorzeitigem Haarausfall der Kopfhaut, ischämischen Schlaganfällen, Rückenschmerzen und Demenz. Synonyme sind: Maeda-Syndrom; Zerebrale Arteriopathie mit subkortikalen Infarkten und Leukoenzephalopathie, autosomal-rezessiv; englisch Subcortical Vascular Encephalopathy, Progressive; Cerebrovascular Disease With Thin Skin, Alopecia, And Disc Disease (de)
  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is disease of the arteries in the brain, which causes tissue loss in the subcortical region of the brain and the destruction of myelin in the CNS. CARASIL is characterized by symptoms such as gait disturbances, hair loss, low back pain, dementia, and stroke. CARASIL is a rare disease, having only been diagnosed in about 50 patients, of which ten have been genetically confirmed. Most cases have been reported in Japan, but Chinese and caucasian individuals have also been diagnosed with the disease. CARASIL is inherited in an autosomal recessive pattern. There is currently no cure for CARASIL. Other names for CARASIL include familial young-adult-onset arteriosclerotic leukoencephalopathy with (en)
  • Per sindrome CARASIL (acronimo derivante dai termini in inglese "cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy") si intende una malattia delle arterie del cervello, che causa la perdita di tessuto nella regione sottocorticale del cervello e la distruzione della mielina nel sistema nervoso centrale. CARASIL è caratterizzato da sintomi come disturbi dell'andatura, perdita di capelli, lombalgia, demenza e ictus. La sindrome è una malattia rara, essendo stata diagnosticata solo in circa 50 pazienti, di cui dieci geneticamente confermati. La maggior parte dei casi è stata segnalata in Giappone, ma è stata diagnostica anche su individui cinesi e caucasici. Si tratta di una sindrome eredetiraia con una dominanza autosomica recessiva. Attualmente non e (it)
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  • http://commons.wikimedia.org/wiki/Special:FilePath/Autosomal_recessive_-_en.svg
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ICD
  • F01.1 (en)
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  • CARASIL is autosomal recessive. (en)
synonyms
  • Maeda syndrome (en)
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  • CARASIL, Akronym für Cerebral Autosomal-Rezessive Arteriopathie mit Subcorticalen Infarkten und Leukenzephalopathie, ist eine sehr seltene angeborene Erkrankung der kleinen Hirngefäße mit Gangstörungen, vorzeitigem Haarausfall der Kopfhaut, ischämischen Schlaganfällen, Rückenschmerzen und Demenz. Synonyme sind: Maeda-Syndrom; Zerebrale Arteriopathie mit subkortikalen Infarkten und Leukoenzephalopathie, autosomal-rezessiv; englisch Subcortical Vascular Encephalopathy, Progressive; Cerebrovascular Disease With Thin Skin, Alopecia, And Disc Disease Die Namensbezeichnung bezieht sich auf den Erstautoren der Erstbeschreibung aus dem Jahre 1976 durch den Japanischen Arzt S. Maeda und Mitarbeiter. Die Erkrankung ist nicht zu verwechseln mit der autosomal-dominant vererbten, klinisch weniger ausgeprägten CADASIL. (de)
  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is disease of the arteries in the brain, which causes tissue loss in the subcortical region of the brain and the destruction of myelin in the CNS. CARASIL is characterized by symptoms such as gait disturbances, hair loss, low back pain, dementia, and stroke. CARASIL is a rare disease, having only been diagnosed in about 50 patients, of which ten have been genetically confirmed. Most cases have been reported in Japan, but Chinese and caucasian individuals have also been diagnosed with the disease. CARASIL is inherited in an autosomal recessive pattern. There is currently no cure for CARASIL. Other names for CARASIL include familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension, Nemoto disease and Maeda syndrome. (en)
  • Le CARASIL, acronyme pour l'anglais : Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, est une maladie génétique due à une mutation du gène , avec perte de fonction. (fr)
  • Per sindrome CARASIL (acronimo derivante dai termini in inglese "cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy") si intende una malattia delle arterie del cervello, che causa la perdita di tessuto nella regione sottocorticale del cervello e la distruzione della mielina nel sistema nervoso centrale. CARASIL è caratterizzato da sintomi come disturbi dell'andatura, perdita di capelli, lombalgia, demenza e ictus. La sindrome è una malattia rara, essendo stata diagnosticata solo in circa 50 pazienti, di cui dieci geneticamente confermati. La maggior parte dei casi è stata segnalata in Giappone, ma è stata diagnostica anche su individui cinesi e caucasici. Si tratta di una sindrome eredetiraia con una dominanza autosomica recessiva. Attualmente non esiste una cura. Altri nomi per CARASIL includono leucoencefalopatia arteriosclerotica familiare ad esordio in giovane età con alopecia e lombalgia senza ipertensione arteriosa, malattia di Nemoto e sindrome di Maeda. (it)
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ICD10
  • F01.1
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ORPHA
  • 199354
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