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Epidemiology and subtypes of dementia
Published in Marjolein de Vugt, Janet Carter, Understanding Young Onset Dementia, 2021
Vascular cognitive impairment in young patients is commonly associated with vascular risk factors, but careful investigation can yield rare causes such as mitochondrial disease, cerebral vasculitis or an inherited condition. Hereditary small vessel diseases of the brain such as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) are important to consider (Yamamoto et al., 2011). Another important consideration is cerebral amyloid angiopathy (CAA), where amyloid protein is deposited in the cerebral blood vessel wall and can have an inflammatory component that is responsive to steroid therapy (Eng et al., 2004). Lobar microhemorrhages on SWI sequences on MRI aid detection. APP duplications are also important to consider as they are associated with CAA, cerebral haemorrhage and seizures (Banerjee et al., 2017).
Genetic diseases mimicking multiple sclerosis
Published in Postgraduate Medicine, 2021
Chueh Lin Hsu, Piotr Iwanowski, Chueh Hsuan Hsu, Wojciech Kozubski
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an arterial disease in the brain caused by a mutation in the HTRA1 gene. The defected HTRA1 enzyme made by the HTRA1 gene fails to regulate the transforming growth factor-beta (TGF-β) and as a consequence an increase in TGF-β signaling. TGF-β has an important role in maintaining vascular integrity. It is proposed that with the increased signaling of TGF-β, proteins such as extra domain A fibronectin, hyaluronan, and versican start building up and induce subsequent loss of vascular smooth muscle cells discovered in CARASIL patients. CARASIL is extremely rare, with current reported cases mostly from Japan and China, and about half of the patients affected by this disease were born to consanguineous parents [65-67].
Clinical neuroimaging in intracerebral haemorrhage related to cerebral small vessel disease: contemporary practice and emerging concepts
Published in Expert Review of Neurotherapeutics, 2022
Martina Goeldlin, Catriona Stewart, Piotr Radojewski, Roland Wiest, David Seiffge, David J Werring
CARASIL is an autosomal recessive mutation in the HTRA1 gene, which is rarer than CADASIL [51]. Although it seems to predominantly affect Chinese and Japanese people, cases in Caucasians have been described as well [52]. Clinical presentation includes lacunar strokes, progressive dementia, alopecia, and attacks of low back pain, ICH is rare [53]. Neuroimaging findings are comparable to those in CADASIL [51].
Brain microvascular pathology in Susac syndrome: an electron microscopic study of five cases
Published in Ultrastructural Pathology, 2019
Dimitri P. Agamanolis, Richard A. Prayson, Negar Asdaghi, Sakir H. Gultekin, Kim Bigley, Robert M. Rennebohm
The vascular changes of SuS may be confused with genetic and sporadic forms of microvascular disease (MVD) most of which cause microinfarcts, leukoencephalopathy, micro- and macro-bleeds, and some also retinopathy. The changes in SuS are easily distinguished from MVDs that have specific microscopic and ultrastructural changes, such as cerebral amyloid angiopathy (CAA) and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), but partially overlap other genetic small vessel diseases (SVDs). Collagen type-IV associated MVD and cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) are essentially BM diseases.16 CARASIL involves larger cerebral and visceral vessels causing myointimal proliferation, multi-layering and splitting of elastic laminae, hyalinization, and marked loss of medial smooth muscle cells.19,20 The EM findings of CARASIL have not been reported. Collagen type IV-associated MVD is characterized clinically by micro-and macro-hemorrhages, microinfarcts, leukoaraiosis, porencephaly and schizencephaly, and anterior eye abnormalities.21 The EM of cerebral vessels has not been described but EM of skin and kidney in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC), which is caused by Collagen IVA1 mutations reveals thickening, defects, fragmentation, and duplication of BMs.22 Similar changes have been described in a mouse model of Collagen IVA1 mutations.23 The vascular pathology, including EM of cerebroretinal vasculopathies and related diseases, has been described in detail24 and is characterized by fibrinoid necrosis, adventitial fibrosis, luminal narrowing, hyalinization, and thrombosis in some cases. The main ultrastructural feature is a multi-lamellated BM, increased collagen deposition, and endothelial edema. While these entities cause MVD, which may partially overlap SuS, they differ from SuS in important ways and can be easily distinguished from it on the basis of their genetic, clinical, and pathological features.