Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

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Rustemoglu B. S., Samancı B., Tepgec F., Kürtüncü M., Altunoglu U., Gündüz T., ...Daha Fazla

TURKISH JOURNAL OF NEUROLOGY, cilt.27, sa.3, ss.240-247, 2021 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 3
  • Basım Tarihi: 2021
  • Doi Numarası: 10.4274/tnd.2021.91298
  • Dergi Adı: TURKISH JOURNAL OF NEUROLOGY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.240-247
  • Anahtar Kelimeler: CARASIL, CADASIL, autosomal dominant, recessive, NOTCH3, HTRA1, AUTOSOMAL-DOMINANT ARTERIOPATHY, NOTCH3 MUTATIONS, HTRA1 MUTATIONS, CADASIL PATIENT, PREVALENCE, FEATURES
  • İstanbul Üniversitesi Adresli: Evet

Özet

Objective: Most lacunar strokes are sporadic, and hypertension, diabetes, smoking, and cardiovascular diseases are among its main risk factors. Strokes caused by small vessel diseases are generally associated with single-gene disorders with familial dominant and recessive inheritance. The most common condition is cerebral autosomal dominant arteriopathy, with subcortical infarcts and leukoencephalopathy (CADASIL), associated with the NOTCH3 gene. An infrequent form of this disease is the cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), revealed with pathogenic HTRA1 gene variants related to distinct molecular pathways. The neurological and cranial magnetic resonance imaging (MRI) findings are very similar to CADASIL; however, earlier than expected onset of common alopecia in man, low back pain, and more severe memory impairment are the differences in terms of clinical presentations. Clinical findings of 22 patients from 16 families with widespread white matter lesions in the periventricular field in the brain were investigated with molecular genetic findings.