Cargando…

A novel MYORG mutation causes primary familial brain calcification with migraine: Case report and literature review

Primary familial brain calcification (PFBC) is a disorder in which pathologic calcification of the basal ganglia, cerebellum, or other brain regions with bilateral symmetry occurs. Common clinical symptoms include dysarthria, cerebellar symptoms, motor deficits, and cognitive impairment. Genetic fac...

Descripción completa

Detalles Bibliográficos
Autores principales:	Song, Tingwei, Zhao, Yuwen, Wen, Guo, Du, Juan, Xu, Qian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9932805/ https://www.ncbi.nlm.nih.gov/pubmed/36816548 http://dx.doi.org/10.3389/fneur.2023.1110227

Ejemplares similares

MYORG is associated with recessive primary familial brain calcification
por: Arkadir, David, et al.
Publicado: (2018)

Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification
por: Zeng, Yi-Heng, et al.
Publicado: (2021)

Knockdown of myorg leads to brain calcification in zebrafish
por: Zhao, Miao, et al.
Publicado: (2022)

Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report
por: Chen, Shih-Ying, et al.
Publicado: (2020)

The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity
por: Meek, Richard W., et al.
Publicado: (2022)

Primary familial brain calcification in a patient with a novel compound heterozygous mutation in MYORG presenting with an acute ischemic stroke: a case report
por: Yang, Qijie, et al.
Publicado: (2022)

MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism
por: Chelban, Viorica, et al.
Publicado: (2020)

Idiopathic basal ganglia calcification associated with new MYORG mutation site: A case report
por: Fei, Bei-Ni, et al.
Publicado: (2021)

The clinical and genetic spectrum of primary familial brain calcification
por: Carecchio, Miryam, et al.
Publicado: (2023)

A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant
por: Al Ali, Jamal, et al.
Publicado: (2023)

Familial Hemiplegic Migraine With Progressive Cerebellar Ataxia Caused by a p.Thr666Met CACNA1A Gene Mutation in a Chinese Family
por: Li, Mengmeng, et al.
Publicado: (2019)

Ischemic stroke in a patient with Fahr’s disease carrying biallelic mutations in the MYORG gene
por: Li, Yan, et al.
Publicado: (2022)

Migraine and Neuromodulation: A Literature Review
por: Tiwari, Varun, et al.
Publicado: (2022)

Novel GALC Mutations Cause Adult-Onset Krabbe Disease With Myelopathy in Two Chinese Families: Case Reports and Literature Review
por: Zhong, Junfei, et al.
Publicado: (2020)

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
por: Legati, Andrea, et al.
Publicado: (2015)

Familial Hemiplegic Migraine Type 3 (FHM3) With an SCN1A Mutation in a Chinese Family: A Case Report
por: Shao, Na, et al.
Publicado: (2018)

The Genetics of Primary Familial Brain Calcification: A Literature Review
por: Chen, Shih-Ying, et al.
Publicado: (2023)

Immunologic aspects of migraine: A review of literature
por: Salahi, Mehrnaz, et al.
Publicado: (2022)

Caffeine and Primary (Migraine) Headaches—Friend or Foe?
por: Alstadhaug, Karl B., et al.
Publicado: (2019)

Non-invasive Brain Stimulation in Pediatric Migraine: A Perspective From Evidence in Adult Migraine
por: Brighina, Filippo, et al.
Publicado: (2019)

Structural and Functional Reorganization of the Brain in Migraine Without Aura
por: Soheili-Nezhad, Sourena, et al.
Publicado: (2019)

Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family
por: Nicolau, Stefan, et al.
Publicado: (2020)

Evolutionary game model of migraine based on the human brain hypersensitivity
por: Han, Dong-Gyun
Publicado: (2023)

Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification
por: Vanlandewijck, Michael, et al.
Publicado: (2015)

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature
por: Liu, Wenyu, et al.
Publicado: (2022)

Understanding the Clinical Implications of Intracranial Arterial Calcification Using Brain CT and Vessel Wall Imaging
por: Yang, Wen-Jie, et al.
Publicado: (2021)

Baseline Brain Gray Matter Volume as a Predictor of Acupuncture Outcome in Treating Migraine
por: Yang, Xue-Juan, et al.
Publicado: (2020)

Study of the Mechanisms and Therapeutic Approaches of Migraine in Women and Pregnancy: A Literature Review
por: Barus, Jimmy, et al.
Publicado: (2023)

The utility of ChatGPT in the assessment of literature on the prevention of migraine: an observational, qualitative study
por: Moskatel, Leon S., et al.
Publicado: (2023)

The Chronic Migraine Brain: What Have We Learned From Neuroimaging?
por: Filippi, Massimo, et al.
Publicado: (2020)

Hyperkinesias and Echolalia in Primary Familial Brain Calcification
por: Paucar, Martin, et al.
Publicado: (2020)

Association between sleep quality, migraine and migraine burden
por: Duan, Shaojie, et al.
Publicado: (2022)

Disappearance of aura symptoms in patients with hemiplegic migraine after patent foramen ovale closure: a case report and literature review
por: Wang, Pian, et al.
Publicado: (2023)

Comorbidities of Migraine
por: Wang, Shuu-Jiun, et al.
Publicado: (2010)

SYN1 Mutation Causes X-Linked Toothbrushing Epilepsy in a Chinese Family
por: Zhou, Qin, et al.
Publicado: (2021)

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB
por: Keogh, Michael J., et al.
Publicado: (2015)

Associations between anxiety, depression with migraine, and migraine-related burdens
por: Duan, Shaojie, et al.
Publicado: (2023)

Amount and Distribution of Intracranial Calcification in Symptomatic and Asymptomatic Primary Familial Brain Calcification
por: Golüke, Nienke M.S., et al.
Publicado: (2023)

Clinical Features of Primary Familial Brain Calcification in 17 Families
por: Huang, Yuan-Tao, et al.
Publicado: (2018)

Intracranial Arterial Calcification and Intracranial Atherosclerosis: Close but Different
por: Du, Heng, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_o6gcu6cti8eicu5c9et5aq6cia