The First Indian-Origin Family with Genetically Proven Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

Desempeño cognitivo en portadores asintomáticos de las mutaciones R1031C y R141C en CADASIL

“…Only five related studied were found in the database consulted (PubMed). In Japan, while multiple families with CADASIL have been identified, to date only two subjects with the R141C mutation, unrelated to each other, have been described (Mizuno, Mizuta, & Tomimoto, 2016;Murakami et al, 2001;Önder, Kurtcu, Arsava, & Topcuoglu, 2017;Yadav, Bentley, Srivastava, Prasad, & Sharma, 2013).…”

“…In India, a family with CADASIL has emerged for the first time with 17 individuals spanning 3 compatible generations, of which 5 members have been confirmed as having this mutation (Yadav et al, 2013). Finally, in Önder et al (2017) reported that the R141C mutation is uncommon, adding that only two research projects on the mutation had been carried out in the country: a case study in 2014 and a report on two individuals in 2017.…”

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

“…12 Multiple case series describing the genotypic spectrum of relatively common and clinically recognisable disorders like metachromatic leukodystrophy (67 families), 32,33 megalencephalic leukoencephalopathy with subcortical cysts (39 families) 34 and Tay-Sachs disease (28 families) 35 have been published. Multiple case reports describe individuals with hypomyelination with hypodontia and hypogonadotropic hypogonadism, 36 Krabbe disease, 37 Alexander disease, 38 vanishing white matter disease, 39 Canavan disease, 40 leukoencephalopathy with brainstem and spinal cord involvement, 41 glutaric aciduria, 42 GM1 gangliosidosis, 43 Coats plus syndrome, 44 ribose 5-phosphate isomerase deficiency, 45 TUB4A1 related hypomyelinating leukodystrophy, 46 homocystinuria due to MTHFR deficiency 47 and adult onset disorders like cerebral autosomaldominant arteriopathy with subcortical infarcts (CADASIL), 48 CARASIL, 49 diffuse hereditary leukoencephalopathy with spheroids 50 and X-linked adrenoleukodystrophy. [51][52][53] Rare disorders with CNS WMAs like LYRM7 related mitochondrial complex III deficiency with cavitation leukoencephalopathy 53 and SLC33A1 related Huppke-Brendel syndrome with hypomyelination and cerebellar hypoplasia 54 have also been reported.…”

Genotypic and phenotypic variation of CADASIL among Chinese, Indians and Rungus in Malaysia

“…Out of those, only eight were genetically confirmed. The mutations found included R141C mutation (exon 4) in six cases from two families, C260G (exon 5) and C144S (exon 4) in one case each [21][22][23][24][25][26]. The relatively lower number of genetically confirmed cases reported from the South Asian region could be due to underrecognition of the condition and the difficulty in access to genetic screening.…”