Research & Literature

Interventional studies in childhood dystonia do not address the concerns of children and their carers.

Lumsden DE, Gimeno H, Tustin K, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2015; (19(3)):327-36.

Childhood dystonias.

Tabbal SD

Current treatment options in neurology 2015; (17(3)):339 doi:10.1007/s11940-015-0339-4.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).

Alrayes N, Mohamoud HS, Jelani M, et al.

BMC research notes 2015; (8()):271 doi:10.1186/s13104-015-1227-4.

Gabapentin can significantly improve dystonia severity and quality of life in children.

Liow NY, Gimeno H, Lumsden DE, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2016; (20(1)):100-7.

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.

Jurkiewicz E, Dunin-Wąsowicz D, Gieruszczak-Białek D, et al.

Clinical neuroradiology 2017; (27(2)):213-220 doi:10.1007/s00062-015-0472-1.

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.

Schüle R, Wiethoff S, Martus P, et al.

Annals of neurology 2016; (79(4)):646-58 doi:10.1002/ana.24611.

Medication use in childhood dystonia.

Lumsden DE, Kaminska M, Tomlin S, Lin JP

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2016; (20(4)):625-9.

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

Denora PS, Smets K, Zolfanelli F, et al.

Brain : a journal of neurology 2016; (139(Pt 6)):1723-34 doi:10.1093/brain/aww061.

Phenotypic insights into ADCY5-associated disease.

Chang FC, Westenberger A, Dale RC, et al.

Movement disorders : official journal of the Movement Disorder Society 2016; (31(7)):1033-40 doi:10.1002/mds.26598.

Cerebral palsy.

Graham HK, Rosenbaum P, Paneth N, et al.

Nature reviews. Disease primers 2016; (2()):15082 doi:10.1038/nrdp.2015.82.

Status dystonicus in childhood.

Touati N, Ben Rhouma H, Kraoua I, et al.

La Tunisie medicale 2015; (93(12)):756-9.

CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.

Kariminejad A, Schöls L, Schüle R, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2016; (20(5)):782-7.

Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.

Zhang W, Zhou Z, Li X, et al.

Neuroscience letters 2017; (644()):48-54 doi:10.1016/j.neulet.2017.01.019.

Hereditary spastic paraplegia: More than an upper motor neuron disease.

Parodi L, Fenu S, Stevanin G, Durr A

Revue neurologique 2017; (173(5)):352-360 doi:10.1016/j.neurol.2017.03.034.

Dystonic storm: a practical clinical and video review.

Termsarasab P, Frucht SJ

Journal of clinical movement disorders 2017; (4()):10 doi:10.1186/s40734-017-0057-z.

Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia.

Nonnekes J, van Lith B, van de Warrenburg BP, et al.

Journal of rehabilitation medicine 2017; (49(5)):369-377 doi:10.2340/16501977-2227.

Clinical Management of Dystonia in Childhood.

Luc QN, Querubin J

Paediatric drugs 2017; (19(5)):447-461 doi:10.1007/s40272-017-0243-3.

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability.

Kawarai T, Montecchiani C, Miyamoto R, et al.

Journal of the neurological sciences 2017; (380()):92-97 doi:10.1016/j.jns.2017.07.011.

Rethinking status dystonicus.

Ruiz-Lopez M, Fasano A

Movement disorders : official journal of the Movement Disorder Society 2017; (32(12)):1667-1676 doi:10.1002/mds.27207.

[Genetic aspects of movement disorders of adulthood].

Horvath J, Ranza E

Revue medicale suisse 2018; (14(604)):879-882.

The Twists of Pediatric Dystonia: Phenomenology, Classification, and Genetics.

Meijer IA, Pearson TS

Seminars in pediatric neurology 2018; (25()):65-74 doi:10.1016/j.spen.2018.02.001.

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.

Faber I, Martinez ARM, de Rezende TJR, et al.

NeuroImage. Clinical 2018; (19()):848-857 doi:10.1016/j.nicl.2018.05.031.

Alone in a Crowd? Parents of Children with Rare Diseases' Experiences of Navigating the Healthcare System.

Baumbusch J, Mayer S, Sloan-Yip I

Journal of genetic counseling 2018; doi:10.1007/s10897-018-0294-9.

Motor and non-motor determinants of health-related quality of life in young dystonia patients.

Eggink H, Coenen MA, de Jong R, et al.

Parkinsonism & related disorders 2019; (58()):50-55 doi:10.1016/j.parkreldis.2018.08.008.

Genetic landscape of pediatric movement disorders and management implications.

Cordeiro D, Bullivant G, Siriwardena K, et al.

Neurology. Genetics 2018; (4(5)):e265 doi:10.1212/NXG.0000000000000265.

[Genetics of movement disorders-rare but important].

Klebe S, Timmann D

Der Nervenarzt 2019; (90(2)):197-210 doi:10.1007/s00115-018-0659-1.

Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.

Balint B, Charlesworth G, Stamelou M, et al.

European journal of neurology 2019; (26(9)):1240-1243 doi:10.1111/ene.13956.

Stumbling, struggling, and shame due to spasticity: a qualitative study of adult persons with hereditary spastic paraplegia.

Kerstens HCJW, Satink T, Nijkrake MJ, et al.

Disability and rehabilitation 2020; (42(26)):3744-3751 doi:10.1080/09638288.2019.1610084.

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Rattay TW, Lindig T, Baets J, et al.

Brain : a journal of neurology 2019; (142(6)):1561-1572 doi:10.1093/brain/awz102.

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.

Carecchio M, Invernizzi F, Gonzàlez-Latapi P, et al.

Movement disorders : official journal of the Movement Disorder Society 2019; (34(10)):1516-1527 doi:10.1002/mds.27771.

Status dystonicus: management and prevention in children at high risk.

Iodice A, Pisani F

Acta bio-medica : Atenei Parmensis 2019; (90(3)):207-212 doi:10.23750/abm.v90i3.7207.

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.

Powis Z, Towne MC, Hagman KDF, et al.

Clinical genetics 2020; (97(2)):305-311 doi:10.1111/cge.13657.

Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4).

Rattay TW, Boldt A, Völker M, et al.

Journal of neurology 2020; (267(2)):369-379 doi:10.1007/s00415-019-09573-w.

Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.

de Freitas JL, Rezende Filho FM, Sallum JMF, et al.

Journal of the neurological sciences 2020; (409()):116620 doi:10.1016/j.jns.2019.116620.

[A consensus on the standardization of the next generation sequencing process for the diagnosis of genetic diseases (4) - Report interpretation and genetic counseling].

Huang H, Shen Y, Gu W, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(3)):352-357 doi:10.3760/cma.j.issn.1003-9406.2020.03.022.

Clinical Interpretation of Sequence Variants.

Zhang J, Yao Y, He H, Shen J

Current protocols in human genetics 2020; (106(1)):e98 doi:10.1002/cphg.98.

Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onset.

Wassenberg T, Schouten MI, Helmich RC, et al.

Parkinsonism & related disorders 2020; (74()):12-15 doi:10.1016/j.parkreldis.2020.03.019.

Rhabdomyolysis.

Cabral BMI, Edding SN, Portocarrero JP, Lerma EV

Disease-a-month : DM 2020; (66(8)):101015 doi:10.1016/j.disamonth.2020.101015.

A novel REEP1 splicing mutation with broad clinical variability in a family with hereditary spastic paraplegia.

Park SY, Park JM, Lee B, et al.

Gene 2021; (765()):145129 doi:10.1016/j.gene.2020.145129.

Fifteen-minute consultation: Approach to investigation and management of childhood dystonia.

Forman EB, King MD, Gorman KM

Archives of disease in childhood. Education and practice edition 2021; (106(2)):71-77 doi:10.1136/archdischild-2019-318131.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Ebrahimi-Fakhari D, Teinert J, Behne R, et al.

Brain : a journal of neurology 2020; (143(10)):2929-2944 doi:10.1093/brain/awz307.

Clinical Features of Acute Rhabdomyolysis in 55 Pediatric Patients.

Yao Z, Yuan P, Hong S, et al.

Frontiers in pediatrics 2020; (8()):539 doi:10.3389/fped.2020.00539.

Monogenic variants in dystonia: an exome-wide sequencing study.

Zech M, Jech R, Boesch S, et al.

The Lancet. Neurology 2020; (19(11)):908-918 doi:10.1016/S1474-4422(20)30312-4.

Status dystonicus associated with CLN8 disease.

Yıldırım M, Köse E, Keçeli AM, et al.

Brain & development 2021; (43(4)):571-575 doi:10.1016/j.braindev.2020.12.005.

Variability in Cerebral Palsy Diagnosis.

Aravamuthan BR, Fehlings D, Shetty S, et al.

Pediatrics 2021; (147(2)) doi:10.1542/peds.2020-010066.

Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.

Du J

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2021; (85()):67-71 doi:10.1016/j.jocn.2020.11.036.

GCH1 mutations in hereditary spastic paraplegia.

Varghaei P, Yoon G, Estiar MA, et al.

Clinical genetics 2021; (100(1)):51-58 doi:10.1111/cge.13955.

Muscle Characteristics in Pediatric Hereditary Spastic Paraplegia vs. Bilateral Spastic Cerebral Palsy: An Exploratory Study.

De Beukelaer N, Bar-On L, Hanssen B, et al.

Frontiers in neurology 2021; (12()):635032 doi:10.3389/fneur.2021.635032.

Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.

Zech M, Jech R, Boesch S, et al.

Movement disorders : official journal of the Movement Disorder Society 2021; (36(8)):1959-1964 doi:10.1002/mds.28614.

Childhood-onset hereditary spastic paraplegia and its treatable mimics.

Ebrahimi-Fakhari D, Saffari A, Pearl PL

Molecular genetics and metabolism 2022; (137(4)):436-444 doi:10.1016/j.ymgme.2021.06.006.

Rhabdomyolysis: Revisited.

Gupta A, Thorson P, Penmatsa KR, Gupta P

The Ulster medical journal 2021; (90(2)):61-69.

Case Report: Guitarist's cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutation.

Hasegawa T, Hosaka T, Harada R, et al.

F1000Research 2021; (10()):361 doi:10.12688/f1000research.51433.1.

Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.

Ebrahimi-Fakhari D, Alecu JE, Ziegler M, et al.

Neurology 2021; (97(19)):e1942-e1954 doi:10.1212/WNL.0000000000012836.

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

Giordani GM, Diniz F, Fussiger H, et al.

Scientific reports 2021; (11(1)):22248 doi:10.1038/s41598-021-01635-2.

Hereditary spastic paraplegia initially diagnosed as cerebral palsy.

Suchowersky O, Ashtiani S, Au PB, et al.

Clinical parkinsonism & related disorders 2021; (5()):100114 doi:10.1016/j.prdoa.2021.100114.

A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.

Miyake N, Silva S, Troncoso M, et al.

Clinical genetics 2022; (101(3)):359-363 doi:10.1111/cge.14097.

Infantile onset ascending hereditary spastic paralysis.

Eltoum A, O'Rourke D, Sharif F

BMJ case reports 2022; (15(1)) doi:10.1136/bcr-2020-240941.

A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan.

Wu MC, Chang YY, Lan MY, et al.

The Journal of molecular diagnostics : JMD 2022; (24(3)):262-273 doi:10.1016/j.jmoldx.2021.12.003.

Status Dystonicus in Children: A Cross-Sectional Study and Review of Literature.

Saini AG, Hassan I, Sharma K, et al.

Journal of child neurology 2022; (37(6)):441-450 doi:10.1177/08830738221081593.

The diagnostic journey of genetically defined neurodevelopmental disorders.

Simon J, Hyde C, Saravanapandian V, et al.

Journal of neurodevelopmental disorders 2022; (14(1)):27 doi:10.1186/s11689-022-09439-9.

The diagnostic odyssey: insights from parents of children living with an undiagnosed condition.

Bauskis A, Strange C, Molster C, Fisher C

Orphanet journal of rare diseases 2022; (17(1)):233 doi:10.1186/s13023-022-02358-x.

Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias.

Ölmez A, Çetin GO, Karaer K

American journal of medical genetics. Part A 2022; (188(9)):2712-2717 doi:10.1002/ajmg.a.62878.

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Mo A, Saffari A, Kellner M, et al.

Movement disorders : official journal of the Movement Disorder Society 2022; (37(12)):2440-2446 doi:10.1002/mds.29225.

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

Freua F, Almeida MEC, Nóbrega PR, et al.

Cold Spring Harbor molecular case studies 2022; doi:10.1101/mcs.a006232.

A Practical Guide to Genetic Testing for Kidney Disorders of Unknown Etiology.

Aron AW, Dahl NK, Besse W

Kidney360 2022; (3(9)):1640-1651 doi:10.34067/KID.0007552021.

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.

Saffari A, Kellner M, Jordan C, et al.

Brain : a journal of neurology 2023; (146(5)):2003-2015 doi:10.1093/brain/awac391.

Hereditary spastic paraplegia in Mali: epidemiological and clinical features.

Diarra S, Coulibaly T, Dembélé K, et al.

Acta neurologica Belgica 2023; (123(6)):2155-2165 doi:10.1007/s13760-022-02113-w.

Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.

Fereshtehnejad SM, Saleh PA, Oliveira LM, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023; (44(3)):947-959 doi:10.1007/s10072-022-06516-8.

Dysarthria in hereditary spastic paraplegia type 4.

Jacinto-Scudeiro LA, Rothe-Neves R, Dos Santos VB, et al.

Clinics (Sao Paulo, Brazil) 2023; (78()):100128 doi:10.1016/j.clinsp.2022.100128.

Neurosurgical management of elevated tone in childhood: interventions, indications and uncertainties.

Lumsden DE

Archives of disease in childhood 2023; (108(9)):703-708 doi:10.1136/archdischild-2020-320907.

Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia.

McNutt MC, Foreman N, Gotway G

Movement disorders clinical practice 2023; (10(1)):109-114 doi:10.1002/mdc3.13612.

Case report: Rhabdomyolysis in children in acute and chronic disease-a challenging condition in pediatric emergency medicine.

Mand N, Donath C, Leonhardt A, et al.

Frontiers in pediatrics 2023; (11()):1070465 doi:10.3389/fped.2023.1070465.

MECP2 duplication syndrome initially misdiagnosed as cerebral palsy: a case report.

Kim TY, Lee SJ, Kim KM, Cho SR

The Journal of international medical research 2023; (51(3)):3000605231162452 doi:10.1177/03000605231162452.

Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics.

Pringsheim T, Batla A, Shalash A, et al.

Movement disorders clinical practice 2023; (10(5)):748-755 doi:10.1002/mdc3.13728.

Movement disorders in hereditary spastic paraplegias.

Pedroso JL, Vale TC, Freitas JL, et al.

Arquivos de neuro-psiquiatria 2023; (81(11)):1000-1007 doi:10.1055/s-0043-1777005.

The therapeutic effects of physical treatment for patients with hereditary spastic paraplegia: a narrative review.

Di Ludovico A, Ciarelli F, La Bella S, et al.

Frontiers in neurology 2023; (14()):1292527 doi:10.3389/fneur.2023.1292527.

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.

Kilic MA, Yildiz EP, Deniz A, et al.

Pediatric neurology 2024; (152()):189-195 doi:10.1016/j.pediatrneurol.2024.01.005.

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.

Cioffi E, Coppola G, Musumeci O, et al.

Neurogenetics 2024; (25(2)):51-67 doi:10.1007/s10048-024-00749-9.

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Brankovic M, Ivanovic V, Basta I, et al.

Neurogenetics 2024; (25(3)):165-177 doi:10.1007/s10048-024-00755-x.

Long-Term Globus Pallidus Internus Deep Brain Stimulation in Pediatric Non-Degenerative Dystonia: A Cohort Study and a Meta-Analysis.

Duga V, Giossi R, Romito LM, et al.

Movement disorders : official journal of the Movement Disorder Society 2024; (39(7)):1131-1144 doi:10.1002/mds.29815.

Actigraph-based quantification of sleep in children with dystonia undergoing deep brain stimulation.

Zhang F, Mithani K, Breitbart S, et al.

Neurosurgical focus 2024; (56(6)):E17 doi:10.3171/2024.3.FOCUS2462.

Comparison of The Results of Sponsored Genetic Testing Panels for Inherited Retinal Diseases.

Bao YK, Situ BA, Runner M, et al.

Journal of clinical medicine 2024; (13(11)) doi:10.3390/jcm13113118.

Evolving understanding of CP phenotypes: the importance of dystonia.

Lewis SA, Aravamuthan B, Fehlings D, Kruer MC

Pediatric research 2024; doi:10.1038/s41390-024-03327-9.

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M, Dzinovic I, Skorvanek M, et al.

Brain : a journal of neurology 2025; (148(8)):2827-2846 doi:10.1093/brain/awaf059.

Eye movement disorders in genetic dystonia syndromes: A literature overview.

Pollini L, Pettenuzzo I, Tijssen MAJ, et al.

Parkinsonism & related disorders 2025; (133()):107325 doi:10.1016/j.parkreldis.2025.107325.

Clinical and Basic Research on Dopa-Responsive Dystonia: Neuropathological and Neurochemical Findings.

Furukawa Y

Juntendo medical journal 2025; (71(1)):2-10 doi:10.14789/ejmj.JMJ24-0023-R.

Spectrum of Inherited Childhood-Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable Causes.

Adarsha N, Shambhavi A, Sait H, et al.

Clinical genetics 2025; (108(4)):422-432 doi:10.1111/cge.14762.

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

Mania-Pâris L, Ewenczyk C, Nicolas G, et al.

Revue neurologique 2025; (181(6)):471-482 doi:10.1016/j.neurol.2025.05.001.

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.

Penn D, Amir Y, David GB, et al.

Movement disorders clinical practice 2025; (12(11)):1811-1820 doi:10.1002/mdc3.70145.

Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study.

Quaranta CA, Gardani A, Andorno G, et al.

Genes 2025; (16(8)) doi:10.3390/genes16080970.

The cognitive profile of hereditary spastic paraplegia: a systematic review of the literature.

Quinzi A, Capogna E, Guidi L, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(12)):6393-6416 doi:10.1007/s10072-025-08408-z.

Nonmotor Symptom Scales in Children With Movement Disorders: A Scoping Review.

Desjardins C, Nilles C, Gimeno H, et al.

Neurology 2025; (105(9)):e214289 doi:10.1212/WNL.0000000000214289.

Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia.

Schmidt HJD, Battaglia N, Rong J, et al.

Annals of clinical and translational neurology 2026; (13(1)):193-199 doi:10.1002/acn3.70244.

Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases.

Resch D, Alecu JE, Yang K, et al.

Movement disorders : official journal of the Movement Disorder Society 2026; (41(3)):615-624 doi:10.1002/mds.70141.

Second Episode of Rhabdomyolysis: A Case Report.

Ohns MJ, Wolfe B

Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2026; (40(3)):e119-e124 doi:10.1016/j.pedhc.2025.11.027.

French virtual multidisciplinary team meeting for pediatric movement disorders (PMD-vMDT): a three-year survey.

François-Heude MC, Lecardonnel B, Papathanasiou M, et al.

Frontiers in neurology 2025; (16()):1751665 doi:10.3389/fneur.2025.1751665.

Diagnostic yield of genome sequencing in children with progressive movement disorders.

Schierbaum L, Gonzalez Saez-Diez E, Tam A, et al.

Brain : a journal of neurology 2026; (149(10)):3404-3413 doi:10.1093/brain/awag050.

Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit.

Abouhala S, Del Rosario MC, Holm IA, Wojcik MH

Genetics in medicine open 2026; (4()):103490 doi:10.1016/j.gimo.2025.103490.

Genetic analysis reveals phenotypic variability in three Colombian families with dopa-responsive dystonia: novel genotype-phenotype correlations.

Lince-Rivera I, Martinez-Córdoba N, Ramón-Gómez JL, et al.

BMC medical genomics 2026; (19(1)).

Tailoring acceptance and commitment therapy for parents of children with undiagnosed conditions: a qualitative pre-implementation study.

Rutzick S, Aufox S, Borto E, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Genotype-structure-phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4.

Alecu JE, Schierbaum LM, Tam A, et al.

Brain : a journal of neurology 2026; doi:10.1093/brain/awag150.

The genetic landscape of childhood-onset dystonia in a nationwide Turkish cohort: Clinical spectrum, molecular diagnostics, and therapeutic implications.

Yilmaz S, Serdaroglu E, Simsek E, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2026; (62()):51-60 doi:10.1016/j.ejpn.2026.06.003.

Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.

Chetta M, Lattarulo S, Stasi M, et al.

Genes 2026; (17(6)) doi:10.3390/genes17060722.

The expected utility and psychological impacts of exome sequencing results in the DDD-Africa study.

Schnell S, Goliath Z, Shingwenyana B, et al.

Journal of genetic counseling 2026; (35(3)):e70251 doi:10.1002/jgc4.70251.

Clinical and genetic characteristics of pediatric hereditary spastic paraplegia in the Eastern Levant.

Habanjar D, Kreidly S, Trad S, Boustany RM

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2026; (63()):69-75 doi:10.1016/j.ejpn.2026.07.003.

Phenotypic Spectrum and Clinical Approach to Early-Onset Hereditary Spastic Paraplegia.

Wilson JL, Blackstone C, Ebrahimi-Fakhari D, França Junior MC

Movement disorders clinical practice 2026; doi:10.1002/mdc3.70827.

Hereditary spastic paraplegia: a practical approach.

Bradley M, Kalfat A, Walsh RA, et al.

Practical neurology 2026; doi:10.1136/pn-2026-005344.

Rehabilitation management of children with hereditary spastic paraplegia: a retrospective cohort study.

Paget SP, McIntyre S, Lewis J, et al.

Developmental neurorehabilitation 2026; 1-8 doi:10.1080/17518423.2026.2738682.

Molecular Diagnostic Yield and Genotype-Phenotype Spectrum of Inherited Eye Diseases in a Tertiary Health Center in Türkiye.

Çevik MÖ

Beyoglu eye journal 2026; (11(3)):266-271 doi:10.14744/bej.2026.75391.

Childhood-onset hereditary spastic paraplegia: at the crossroads between neurodevelopment and neurodegeneration.

Espasandin-Hueter N, Salazar-Villacorta A, Escudero JM, et al.

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