Brain Calcification and Movement Disorders

Kostić, Vladimir; Petrović, Igor

doi:10.1007/s11910-017-0710-9

Cited by 23 publications

(17 citation statements)

References 78 publications

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“…There are four causal genes identified so far, including solute carrier family 20 member 2 ( SLC20A2 ), platelet-derived growth factor receptor beta ( PDGFRB ), platelet-derived growth factor subunit B ( PDGFB ), xenotropic and polytropic retrovirus receptor 1 ( XPR1 ). [ 2 ] In this study, we reported a familial IBGC pedigree caused by a novel SLC20A2 mutation. Furthermore, we reviewed literature clinical characteristics of different genotype, aiming to help clinical diagnosis.…”

Section: Introductionmentioning

confidence: 99%

A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients

Ding

Dong

2018

Chinese Medical Journal

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Background:Idiopathic basal ganglia calcification (IBGC) is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and genotypes in Chinese IBGC patients.Methods:Clinical information of the proband and her relatives were collected comprehensively. Blood samples of both the patient and her father were obtained, and genetic screening related to IBGC was performed using second generation sequencing with their consent. Findings were confirmed by Sanger sequencing. Polyphen-2 was used to predict the potential association between mutations and disease. Then, we retrieved literatures of Chinese IBGC patients and explored the association between phenotype and genotype.Results:A novel mutation was identified through genetic testing, and it is suggested to be a damage mutation predicted by Polyphen-2. Through literature review, we found that SLC20A2 mutation is the most common cause for IBGC in China. Its hot spot regions are mainly on the 1st and 8th exons; the second common one is PDGFB where the hot spot covered a length of 220–230 bp localized on the 2nd exon; moreover, Chinese IBGC patients featured early-onset, more severe movement disorder and relatively mild cognitive impairment compared with those in other countries.Conclusions:There is significant heterogeneity both in phenotype and genotype in Chinese IBGC patients. Further research of pathogenic mechanism of IBGC is required to eventually develop precise treatment for individuals who suffered this disease.

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Section: Introductionmentioning

confidence: 99%

A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients

Ding

Dong

2018

Chinese Medical Journal

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“…The lesions of MS related to PKD involve the thalamus, the lenticular nucleus, the globus pallidus and the internal capsule [43], and these demyelinating lesions may result in increased axon sensitivity that causes symptoms [43]. Calcification of the basal ganglia, including the idiopathic basal ganglial calcification and the basal ganglial calcification secondary to hypoparathyroidism or pseudo-parathyroidism, may also cause the secondary PKD [47][48][49][50][51].…”

Section: Etiology and Pathogenesismentioning

confidence: 99%

Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China

Cao¹,

Huang²,

Wang³

et al. 2021

Transl Neurodegener

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Paroxysmal dyskinesias are a group of neurological diseases characterized by intermittent episodes of involuntary movements with different causes. Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesia and can be divided into primary and secondary types based on the etiology. Clinically, PKD is characterized by recurrent and transient attacks of involuntary movements precipitated by a sudden voluntary action. The major cause of primary PKD is genetic abnormalities, and the inheritance pattern of PKD is mainly autosomal-dominant with incomplete penetrance. The proline-rich transmembrane protein 2 (PRRT2) was the first identified causative gene of PKD, accounting for the majority of PKD cases worldwide. An increasing number of studies has revealed the clinical and genetic characteristics, as well as the underlying mechanisms of PKD. By seeking the views of domestic experts, we propose an expert consensus regarding the diagnosis and treatment of PKD to help establish standardized clinical evaluation and therapies for PKD. In this consensus, we review the clinical manifestations, etiology, clinical diagnostic criteria and therapeutic recommendations for PKD, and results of genetic analyses in PKD patients performed in domestic hospitals.

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“…For example, a suspicion of neurodegeneration with brain iron accumulation or a cerebellar atrophy may lead to specific genetic testing. In dystonia parkinsonism syndromes, by contrast, brain imaging may be abnormal and shows accumulation of metals: manganese, as in Kufor–Rakeb syndrome (PARK‐ATP13A2) ; calcium, as in primary familial brain calcifications ; iron, as in neurodegenerations with brain iron accumulation . A brain computed tomography scan is preferable if calcifications are suspected; otherwise MRI is the neuroimaging of choice.…”

Section: Investigationsmentioning

confidence: 99%

Dystonia: diagnosis and management

Albanese

Giovanni

Lalli

2018

Euro J of Neurology

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Clinical practice in dystonia has greatly evolved in recent years; a synthetic review on patient management is provided here. Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures or both. A recent classification has innovated clinical practice and serves as guidance for clinical assessment: Axis I describes clinical features, whereas Axis II indicates etiology. Dystonia presents with different syndromic aggregations with varied somatic involvement and some common features. There are five recognizable physical signs of dystonia: two main signs (dystonic postures and movements) and three additional signs (gestes antagonistes or tricks, mirror dystonia and overflow dystonia). There is still no validation of diagnostic criteria for the different dystonia syndromes, and many cases with mild phenomenology remain undiagnosed. Patients with dystonia also present non-motor features that are variably combined with the movement disorder. The features of the most common inherited and acquired dystonia syndromes are reviewed here. There is clear evidence of genetic-environmental interaction in the determinism of dystonia. The diagnostic process is guided by clinical examination and based on specific laboratory examinations. Symptomatic treatments are available for dystonia: botulinum neurotoxin injections are the primary choice for most focal dystonia syndromes; deep brain stimulation is useful in some generalized and non-generalized syndromes. Additional treatment strategies are currently being assessed.

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Brain Calcification and Movement Disorders

Cited by 23 publications

References 78 publications

A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients

A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients

Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China

Dystonia: diagnosis and management

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