Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force (Q38808532)

6 September 2017

title

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force (English)

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Saadet Mercimek-Mahmutoglu

6 September 2017

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7

Saadet Mercimek-Mahmutoglu

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6 September 2017

14

Christine Klein

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Connie Fernández-Cid Marras

6 September 2017

1

Connie Marras

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6 September 2017

2

Anthony Lang

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6 September 2017

10

Alexandra Durr

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6 September 2017

5

Sarah J Tabrizi

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6 September 2017

Bart van de Warrenburg

3

Bart P van de Warrenburg

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6 September 2017

6

Lars Bertram

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6 September 2017

Darius Ebrahimi-Fakhari

8

Darius Ebrahimi-Fakhari

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6 September 2017

11

Birgit Assmann

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6 September 2017

13

Vladimir Kostic

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6 September 2017

12

Katja Lohmann

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6 September 2017

Carolyn M Sue

4

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6 September 2017

Thomas T Warner

9

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6 September 2017

language of work or name

English

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publication date

1 April 2016

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6 September 2017

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6 September 2017

volume

31

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6 September 2017

issue

4

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6 September 2017

page(s)

436-457

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Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples

6 September 2017

cites work

1 reference

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

21 January 2018

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Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

21 January 2018

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Guidelines for investigating causality of sequence variants in human disease

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Genetics of Parkinson's disease--state of the art, 2013.

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Advances in the genetics of Parkinson disease

21 January 2018

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Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes

21 January 2018

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A large kindred with autosomal dominant Parkinson's disease

21 January 2018

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Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

21 January 2018

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VPS35 mutations in Parkinson disease

21 January 2018

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

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Hereditary early-onset Parkinson's disease caused by mutations in PINK1

21 January 2018

1 reference

Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.

21 January 2018

1 reference

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

21 January 2018

1 reference

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

21 January 2018

1 reference

Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays

21 January 2018

1 reference

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

21 January 2018

1 reference

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures

21 January 2018

1 reference

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism

21 January 2018

1 reference

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

21 January 2018

1 reference

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

21 January 2018

1 reference

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

21 January 2018

1 reference

Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).

21 January 2018

1 reference

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms

21 January 2018

1 reference

Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia

21 January 2018

1 reference

A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

21 January 2018

1 reference

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

21 January 2018

1 reference

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

21 January 2018

1 reference

An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia

21 January 2018

1 reference

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

21 January 2018

1 reference

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

21 January 2018

1 reference

Movement disorders and inborn errors of metabolism in adults: a diagnostic approach

21 January 2018

1 reference

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

21 January 2018

1 reference

Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.

21 January 2018

1 reference

Dystonia and parkinsonism in GM1 type 3 gangliosidosis

21 January 2018

1 reference

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

21 January 2018

1 reference

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

21 January 2018

1 reference

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism

21 January 2018

1 reference

The neurological presentation of ceruloplasmin gene mutations

21 January 2018

1 reference

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

21 January 2018

1 reference

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

21 January 2018

1 reference

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

21 January 2018

1 reference

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.

21 January 2018

1 reference

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.

21 January 2018

1 reference

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

21 January 2018

1 reference

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

21 January 2018

1 reference

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

21 January 2018

1 reference

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia

21 January 2018

1 reference

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

21 January 2018

1 reference

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

21 January 2018

1 reference

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

21 January 2018

1 reference

21 January 2018

1 reference

Phenomenology and classification of dystonia: a consensus update

21 January 2018

1 reference

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

21 January 2018

1 reference

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

21 January 2018

1 reference

Mutations in GNAL cause primary torsion dystonia

21 January 2018

1 reference

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

21 January 2018

1 reference

Dopa-responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs

21 January 2018

1 reference

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

21 January 2018

1 reference

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

21 January 2018

1 reference

The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients

21 January 2018

1 reference

Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients

21 January 2018

1 reference

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

21 January 2018

1 reference

Diagnosis and management of glutaric aciduria type I--revised recommendations

21 January 2018

1 reference

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

21 January 2018

1 reference

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients

21 January 2018

1 reference

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome

21 January 2018

1 reference

Dystonia in the Woodhouse Sakati syndrome: A new family and literature review

21 January 2018

1 reference

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

21 January 2018

1 reference

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

21 January 2018

1 reference

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

21 January 2018

1 reference

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

21 January 2018

1 reference

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

21 January 2018

1 reference

A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome

21 January 2018

1 reference

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

21 January 2018

1 reference

Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report

21 January 2018

1 reference

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

21 January 2018

1 reference

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

21 January 2018

1 reference

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

21 January 2018

1 reference

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

21 January 2018

1 reference

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.

21 January 2018

1 reference

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

21 January 2018

1 reference

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

21 January 2018

1 reference

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

21 January 2018

1 reference

21 January 2018

Paroxysmal dyskinesias

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Paroxysmal movement disorders and episodic ataxias.

21 January 2018

1 reference

Hereditary episodic ataxias

21 January 2018

1 reference

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

21 January 2018

1 reference

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

21 January 2018

1 reference

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

21 January 2018

1 reference

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.

21 January 2018

1 reference

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

21 January 2018

1 reference

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

21 January 2018

1 reference

Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures

21 January 2018

1 reference

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review

21 January 2018

1 reference

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients

21 January 2018

1 reference

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

21 January 2018

1 reference

Genetics of the dominant ataxias

21 January 2018

1 reference

Movement disorders in spinocerebellar ataxias.

21 January 2018

1 reference

Spectrin mutations cause spinocerebellar ataxia type 5.

21 January 2018

1 reference

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

21 January 2018

1 reference

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

21 January 2018

1 reference

Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.

21 January 2018

1 reference

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

21 January 2018

1 reference

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

21 January 2018

1 reference

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia

21 January 2018

1 reference

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16

21 January 2018

1 reference

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

21 January 2018

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Mutations in KCND3 cause spinocerebellar ataxia type 22.

21 January 2018

1 reference

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

21 January 2018

1 reference

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

21 January 2018

1 reference

ELOVL5 mutations cause spinocerebellar ataxia 38

21 January 2018

1 reference

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

21 January 2018

1 reference

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

21 January 2018

1 reference

Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family

21 January 2018

1 reference

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

21 January 2018

1 reference

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

21 January 2018

1 reference

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n

21 January 2018

1 reference

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement

21 January 2018

1 reference

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

21 January 2018

1 reference

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

21 January 2018

1 reference

Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.

21 January 2018

1 reference

VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families

21 January 2018

1 reference

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

21 January 2018

1 reference

Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia

21 January 2018

1 reference

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

21 January 2018

1 reference

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

21 January 2018

1 reference

The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test

21 January 2018

1 reference

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

21 January 2018

1 reference

21 January 2018

1 reference

Mutations in TITF-1 are associated with benign hereditary chorea

21 January 2018

1 reference

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case

21 January 2018

1 reference

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

21 January 2018

1 reference

The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis

21 January 2018

1 reference

Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein

21 January 2018

1 reference

Neuroacanthocytosis syndromes

21 January 2018

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Delineation of the motor disorder of Lesch-Nyhan disease

21 January 2018

1 reference

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

1 reference

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

21 January 2018

1 reference

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

21 January 2018

1 reference

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

21 January 2018

1 reference

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

21 January 2018

1 reference

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

21 January 2018

1 reference

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

21 January 2018

1 reference

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

21 January 2018

1 reference

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

21 January 2018

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Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

21 January 2018

1 reference

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

21 January 2018

1 reference

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

21 January 2018

1 reference

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration

21 January 2018

1 reference

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

21 January 2018

1 reference

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

21 January 2018

1 reference

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

21 January 2018

1 reference

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

21 January 2018

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Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

21 January 2018

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Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

21 January 2018

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Neuropathy target esterase gene mutations cause motor neuron disease

21 January 2018

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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

21 January 2018

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Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

21 January 2018

1 reference

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

21 January 2018

1 reference

A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia

21 January 2018

1 reference

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis

21 January 2018

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Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

21 January 2018

1 reference

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

21 January 2018

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Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

21 January 2018

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Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

21 January 2018

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A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

21 January 2018

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Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

21 January 2018

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A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.

21 January 2018

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Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

21 January 2018

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X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

21 January 2018

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X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

21 January 2018

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A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene

21 January 2018

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SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.

21 January 2018

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Aicardi-Goutières syndrome (AGS).

21 January 2018

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Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

21 January 2018

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Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

21 January 2018

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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

21 January 2018

1 reference

Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).

21 January 2018

1 reference

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

21 January 2018

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Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology

21 January 2018

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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

21 January 2018

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A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

21 January 2018

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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

21 January 2018

1 reference

Newly characterized forms of neurodegeneration with brain iron accumulation

21 January 2018

1 reference

Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations

21 January 2018

1 reference

A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation

21 January 2018

1 reference

C19orf12 mutation leads to a pallido-pyramidal syndrome.

21 January 2018

1 reference

The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms

21 January 2018

1 reference

Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden–Spatz Syndrome

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.26527

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6 September 2017

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