rs782736894 in
BPTF gene and
Leukoaraiosis
PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
rs151344517 in
LOC107985154;AFG3L2;TUBB6 gene and
Leukoaraiosis
PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
rs312262717 in
SPG11 gene and
Leukoaraiosis
PMID 19194956 2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.