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

FRONTIERS IN NEUROLOGY (2023)

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Article Neurosciences

A novel mutation in MYORG leads to primary familial brain calcification and cerebral infarction

Liang Gao et al.

Summary: This study reported a young patient with primary familial brain calcification (PFBC) carrying a novel homozygous mutation in the MYORG gene and presenting with cerebral infarction involving the posterior limb of the right internal capsule.

INTERNATIONAL JOURNAL OF NEUROSCIENCE (2022)

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Article Oncology

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

Qijie Yang et al.

Summary: Primary familial brain calcification (PFBC) is a genetically heterogeneous disease characterized by extensive intracranial calcium deposition, with pathogenic variants in six genes associated with the condition. PFBC patients may present with various symptoms, including movement disorders, cognitive impairment, and psychiatric symptoms, with acute cerebrovascular attacks being rare. This case report highlights a PFBC patient with a novel compound heterozygous mutation in MYORG who experienced an acute ischemic stroke, emphasizing the need for further exploration of the association between acute ischemic strokes and PFBC.

ANNALS OF TRANSLATIONAL MEDICINE (2022)

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Review Endocrinology & Metabolism

Basal ganglia calcification in hypoparathyroidism and pseudohypoparathyroidism: local and systemic metabolic mechanisms

G. Zavatta et al.

Summary: Hypoparathyroidism and pseudohypoparathyroidism are rare disorders of mineral metabolism associated with soft tissue calcification. Maintaining normal calcium/phosphorus ratio and serum phosphate levels may help mitigate the progression of basal ganglia calcification. Further research is needed to explore the pathophysiology and treatment options for these disorders.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2021)

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Review Clinical Neurology

Case Report First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature

Leman Tekin Orgun et al.

Summary: Variants in the MYORG gene are associated with AR-PFBC, with 74 cases evaluated so far. Patients present with a wide range of ages and commonly exhibit speech impairment, movement disorder, and cerebellar signs, along with basal ganglia calcification.

BRAIN & DEVELOPMENT (2021)

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Article Genetics & Heredity

Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification

Yi-Heng Zeng et al.

Summary: The study revealed a link between MYORG gene mutations and PFBC in Chinese patients, with affected individuals showing a consistent clinical spectrum including brain calcification and parkinsonism. Novel MYORG variants were identified, expanding the understanding of genetic and phenotypic diversity in PFBC-MYORG.

FRONTIERS IN GENETICS (2021)

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Article Genetics & Heredity

Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl

Hao Sun et al.

Summary: This study identified a PFBC case with both SLC20A2 and PDGFRB heterozygous mutations. The parents of the case carried a single heterozygous mutation in either SLC20A2 or PDGFRB, showing varying degrees of brain calcification.

MOLECULAR GENETICS & GENOMIC MEDICINE (2021)

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Review Clinical Neurology

Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review

Alexander Balck et al.

Summary: This systematic review summarizes data on individuals with confirmed genetic forms of primary familial brain calcification, revealing that some carriers of certain gene mutations are clinically unaffected, and different gene variants show varying penetrance. Clinically affected patients often exhibit motor or non-motor symptoms, with parkinsonism and speech disturbance being the most common motor manifestations, and cognitive deficits, headache, and depression being major non-motor symptoms.

MOVEMENT DISORDERS (2021)

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Article Medicine, General & Internal

Idiopathic basal ganglia calcification associated with new MYORG mutation site: A case report

Bei-Ni Fei et al.

Summary: Idiopathic basal ganglia calcification (IBGC) is a neurodegenerative disease characterized by symmetrical calcification of basal ganglia and other brain regions. Detection of MYORG mutation is crucial for better understanding and potential treatments, especially in patients without an obvious family history.

WORLD JOURNAL OF CLINICAL CASES (2021)

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Article Clinical Neurology

MYORG mutation heterozygosity is associated with brain calcification

You Chen et al.

MOVEMENT DISORDERS (2020)

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Article Biochemistry & Molecular Biology

Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis

Uriel Lopez-Sanchez et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2020)

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Article Genetics & Heredity

The first Japanese case of primary familial brain calcification caused by an MYORG variant

Kodai Kume et al.

JOURNAL OF HUMAN GENETICS (2020)

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Article Biochemistry & Molecular Biology

Overlapping Diseases in a Brazilian Subject with Brain Calcification Linked to Novel Phenotypes

Laura D. Ferreira et al.

JOURNAL OF MOLECULAR NEUROSCIENCE (2020)

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Article Clinical Neurology

Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report

Shih-Ying Chen et al.

BMC NEUROLOGY (2020)

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Review Endocrinology & Metabolism

Neurovascular mechanisms of migraine and cluster headache

Jan Hoffmann et al.

JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM (2019)

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Article Clinical Neurology

Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype

Lou Grangeon et al.

BRAIN (2019)

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Letter Clinical Neurology

New homozygous indel in MYORG linked to brain calcification, thyroidopathy and neuropathy

Laura D. Ferreira et al.

BRAIN (2019)

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Review Clinical Neurology

Primary familial brain calcifications: genetic and clinical update

Ana Westenberger et al.

CURRENT OPINION IN NEUROLOGY (2019)

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Letter Clinical Neurology

A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification

Yalda Forouhideh et al.

BRAIN (2019)

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Article Neurosciences

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

Xiang-Ping Yao et al.

NEURON (2018)

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Review Physiology

PATHOPHYSIOLOGY OF MIGRAINE: A DISORDER OF SENSORY PROCESSING

Peter J. Goadsby et al.

PHYSIOLOGICAL REVIEWS (2017)

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Review Clinical Neurology

Primary Familial Brain Calcification With Known Gene Mutations A Systematic Review and Challenges of Phenotypic Characterization

Vera Tadic et al.

JAMA NEUROLOGY (2015)

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Article Clinical Neurology

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

Gael Nicolas et al.

NEUROLOGY (2013)

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