A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum?

Cerebral small vessel disease (SVD) is recognized to be the leading cause of vascular dementia. Although the most cases are sporadic, familial monogenic causes have been identified. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), a recessive form of heritable SVD, is caused by a mutation in the HtrA serine peptidase 1 (HTRA1) gene, and characterized by progressive neurological deterioration along with early baldness and severe spondylosis [1].

Source: Journal of the Neurological Sciences - November 10, 2018 Category: Neurology Authors: Silvia Favaretto, Monica Margoni, Leonardo Salviati, Luigi Pianese, Renzo Manara, Claudio Baracchini Tags: Letter to the Editor Source Type: research