Zobrazeno 1 - 10
of 594
pro vyhledávání: '"fahr's disease"'
Autor:
Deluwar Hussen, MBBS, Zahin Shahriar, MBBS, Afia Zahin, MBBS, Zareen Tabassum, MBBS, Afefa khanam Mohona, MBBS, Kajal Sarker, MBBS
Publikováno v:
Radiology Case Reports, Vol 20, Iss 1, Pp 266-271 (2025)
Fahr's disease, also known as primary familial brain calcification, is a progressive neurological disorder that follows an autosomal dominant inheritance pattern, characterized by calcifications primarily located within the basal ganglia of the brain
Externí odkaz:
https://doaj.org/article/918ff3ab370b4570a4dc9f11fa080cf3
Publikováno v:
Frontiers in Human Neuroscience, Vol 18 (2024)
Fahr’s disease (FD), otherwise known as primary familial brain calcification, is a rare neurodegenerative condition that involves intracerebral calcification at the level of the basal ganglia and other brain regions. It is an inherited neurologic d
Externí odkaz:
https://doaj.org/article/2130bb2308b4486a9979514f2ede192d
Autor:
Birgitta MG Snijders, Gini Mathijssen, Mike JL Peters, Marielle H Emmelot-Vonk, Pim A de Jong, Susan Bakker, Heleen A Crommelin, Ynte M Ruigrok, Eva H Brilstra, Vera PM Schepers, Wilko Spiering, Evelien van Valen, Huiberdina L Koek
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Fahr’s disease and syndrome are rare disorders leading to calcification of the small arteries in the basal ganglia of the brain, resulting in a wide range of symptoms comprising cognitive decline, movement disorders and neuropsy
Externí odkaz:
https://doaj.org/article/0cde0a52159e438b829397bf0e374401
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Primary familial brain calcification (PFBC), also known as Fahr’s disease, is a central nervous system calcium deposition disorder with symmetrical basal ganglia calcification. Most PFBC cases are caused by SLC20A2 gene variant. We report a Chinese
Externí odkaz:
https://doaj.org/article/aef6d8136d10421998838dab4261612f
Publikováno v:
Frontiers in Psychiatry, Vol 15 (2024)
This case report describes an exceptionally rare case in which a prior diagnosis of schizophrenia was later determined to be early-onset Fahr’s disease, linked to a genetic mutation in the SLC20A2 gene. Initially, the patient exhibited symptoms res
Externí odkaz:
https://doaj.org/article/bf5b4a257c884c15b57f477a04a85c60
Autor:
Daisuke Yoshioka, Takehiko Yamanashi, Kenta Taneda, Takashi Matsukawa, Kenta Orimo, Masaaki Iwata
Publikováno v:
PCN Reports, Vol 3, Iss 1, Pp n/a-n/a (2024)
Abstract Background Idiopathic basal ganglia calcification (IBGC), also known as Farh's disease, is a rare neurodegenerative disorder characterized by calcification of the basal ganglia and other brain regions. This disease usually occurs in middle
Externí odkaz:
https://doaj.org/article/c39e9718a6344666aca4e539d478b28f
Autor:
Ozan Başkurt
Publikováno v:
Egyptian Journal of Neurosurgery, Vol 38, Iss 1, Pp 1-4 (2023)
Abstract Background Fahr’s disease is a very rare inherited neurodegenerative disorder characterized by diffuse and symetric intracranial calcification of the bilateral basal ganglia and cerebellum. Although the disease is slowly progressive, sever
Externí odkaz:
https://doaj.org/article/4c511aab1d4847b283a40f75f493444c
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Primary familial brain calcification (PFBC) is a rare hereditary neurodegenerative disorder associated with the MYORG gene; however, the clinical and radiological characteristics of MYORG‐PFBC remain unclear. Methods We present
Externí odkaz:
https://doaj.org/article/b8e298a5f53c4588b4ab6b6b9f23f581
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-5 (2023)
Abstract Background Primary familial brain calcification (PFBC), habitually called Fahr’s disease, is characterized by bilateral calcification of the basal ganglia, accompanied by extensive calcification of the cerebellar dentate nucleus, brainstem
Externí odkaz:
https://doaj.org/article/b7d3d97ed97a4fae9fcea7c7ff03c662
Publikováno v:
Frontiers in Psychiatry, Vol 14 (2023)
Fahr’s disease (FD) is a rare disorder, characterized by basal ganglia calcification and presenting with movement disorders, speech impairment, cognitive deficits, and neuropsychiatric symptoms. Psychotic disorders related to FD are barely describe
Externí odkaz:
https://doaj.org/article/9e4c40653e034220ab9ccd9d528a7a3d