[HTML][HTML] Ischemic stroke in a patient with Fahr's disease carrying biallelic mutations in the MYORG gene

Y Li, W Fang, W Long, G Zhao - Neurosciences Journal, 2022 - nsj.org.sa
Fahr's disease (FD) is a neurodegenerative disorder characterized by symmetric
calcifications in the bilateral basal ganglia and dentate nuclei. Mutations in six genes are …

Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review

T Zhao, S Xu, S Liu, J Xu, X Zhang… - Molecular Genetics & …, 2023 - Wiley Online Library
Background Primary familial brain calcification (PFBC) is a rare hereditary
neurodegenerative disorder associated with the MYORG gene; however, the clinical and …

[HTML][HTML] Primary familial brain calcification in a patient with a novel compound heterozygous mutation in MYORG presenting with an acute ischemic stroke: a case …

Q Yang, J Li, B Jiao, L Weng - Annals of Translational Medicine, 2022 - ncbi.nlm.nih.gov
Primary familial brain calcification (PFBC) is known as Fahr's disease (FD) or familial
idiopathic basal ganglia calcification (FIBGC). PFBC is a genetically heterogeneous disease …

MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification

M Bauer, D Rahat, E Zisman, Y Tabach… - Current Neurology and …, 2019 - Springer
Abstract Purpose of Review Until recently, the gene associated with the recessive form of
familial brain calcification (PFBC, Fahr disease) was unknown. MYORG, a gene that causes …

A novel mutation in pdgfrb in a patient with primary familial brain calcification: Case Report (P2-12.005)

J Al Ali, J Yang, MS Phillips, J Fink, J Mastrianni… - 2023 - AAN Enterprises
Objective: To describe a case of primary familial brain calcification with a novel variant in the
PDGFRB gene. Background: Fahr's disease, or primary familial brain calcification (PFBC), is …

Ischemic stroke in a young patient with Fahr's disease: a case report

CS Yang, CP Lo, MC Wu - BMC neurology, 2016 - Springer
Background Fahr's disease is a rare neurodegenerative disorder characterized by diffuse
intracranial calcium deposition and associated cell loss mainly in bilateral basal ganglia and …

[PDF][PDF] Fahr's Disease: Case Presentation With Facial Numbness

N Shahid, A Dosu, F Nasser - Cureus, 2023 - cureus.com
Fahr's disease is a rare hereditary neurological disorder characterized by idiopathic basal
ganglia and cerebral cortex calcifications. It presents a wide range of neurological …

[PDF][PDF] Familial Fahr's disease presenting with Parkinsonism in a young male

N Dildar, H Akram, IM Qasmi, MN Qureshi… - J Coll Physicians Surg …, 2014 - jcpsp.pk
Fahr's syndrome is a rare idiopathic neurodegenerative disorder which can present with
wide spectrum of symptoms. It is characterized by bilateral symmetrical dystrophic …

Fahr's disease presenting with pure dementia: A case report and literature review

JP Rissardo, ALF Caprara, JOF Silveira - Apollo Medicine, 2019 - journals.lww.com
Fahr's disease (FD) is a rare inherited or sporadic disorder characterized by symmetrical
calcium deposits in the basal ganglia and dentate nuclei with the absence of biochemical …

[HTML][HTML] A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant

J Al Ali, J Yang, MS Phillips, J Fink, J Mastrianni… - Frontiers in …, 2023 - frontiersin.org
Fahr's disease, or primary familial brain calcification (PFBC), is a rare genetic neurologic
disease characterized by abnormal calcification of the basal ganglia, subcortical white …