Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Development"
DOI: 10.1016/j.braindev.2018.07.009
Abstract: PURPOSE To investigate the genetic and clinical features of a Chinese family exhibiting an autosomal dominant inheritance pattern of lissencephaly. METHODS Clinical examinations and cranial imaging studies were performed for all members of the family… read more here.
Keywords: ganglia calcification; missense mutation; pafah1b1; basal ganglia ... See more keywords
Serum Fetuin-A Levels in Patients with Bilateral Basal Ganglia Calcification
Sign Up to like & getrecommendations! Published in 2018 at "Neuroscience Letters"
DOI: 10.1016/j.neulet.2017.12.050
Abstract: BACKGROUND AND PURPOSE The idiopathic basal ganglia calcification (Fahr syndrome) may occur due to senility. Fetuin-A is a negative acute phase reactant which inhibits calcium-phosphorus precipitation and vascular calcification. In this study, we aimed to… read more here.
Keywords: serum fetuin; ganglia calcification; fetuin levels; calcification ... See more keywords
Idiopathic basal ganglia calcification associated with cerebral micro-infarcts: a case report
Sign Up to like & getrecommendations! Published in 2018 at "BMC Neurology"
DOI: 10.1186/s12883-018-1048-x
Abstract: BackgroundIdiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative disorder characterized by symmetric intracranial calcium deposition. We report a patient with IBGC associated with cerebral infarction due to impairment of cerebrovascular reactivity based on single-photon… read more here.
Keywords: associated cerebral; ganglia calcification; calcification; case ... See more keywords
Adult-Onset Isolated Hemichorea Revealing Iatrogenic Hypoparathyroidism and Bilateral Basal Ganglia Calcification
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_123_18
Abstract: Isolated hemichorea (HC) in adults has a relatively restricted differential diagnosis including stroke of contralateral basal ganglia nuclei, nonketotic hyperglycemia, and basal ganglia toxoplasmosis in HIV infection. Hypoparathyroidism-related basal ganglia calcification can potentially cause neurological… read more here.
Keywords: hypoparathyroidism; hypoparathyroidism bilateral; basal ganglia; ganglia calcification ... See more keywords