Concurrent neurodegenerative pathologies in periventricular nodular heterotopia

Excerpt

Heterotopia are central nervous system malformations caused by aberrant neuronal migration during cortical development. They are classified into three types based on the location of dysplasia: subependymal, subcortical, and band heterotopia [1]. Subependymal heterotopia, also known as periventricular nodular heterotopia (PNH), are the most common type of heterotopia. While patients with heterotopia often develop epilepsy, some individuals with PNH are developmentally and neurologically normal, with heterotopia detected incidentally later in life [1]. In 1997, a report by Dr. Joseph described two elderly females with PNH containing senile plaques and neurofibrillary tangles [4]. Since this initial observation, no additional cases of Alzheimer-type pathology in heterotopia have been reported. As such, we sought to determine whether Alzheimer pathology and other neurodegenerative pathologies were present in cases with PNH. …