Research & Literature

The Parent Experience of Caring for a Child with Mitochondrial Disease.

Senger BA, Ward LD, Barbosa-Leiker C, Bindler RC

Journal of pediatric nursing 2016; (31(1)):32-41.

Diagnosis of Epilepsy and Related Episodic Disorders.

St Louis EK, Cascino GD

Continuum (Minneapolis, Minn.) 2016; (22(1 Epilepsy)):15-37 doi:10.1212/CON.0000000000000284.

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.

Bradshaw TY, Romano LE, Duncan EJ, et al.

Human molecular genetics 2016; (25(15)):3232-3244 doi:10.1093/hmg/ddw173.

A big data approach to the development of mixed-effects models for seizure count data.

Tharayil JJ, Chiang S, Moss R, et al.

Epilepsia 2017; (58(5)):835-844 doi:10.1111/epi.13727.

Collaborative Occupational Therapy: Teachers' Impressions of the Partnering for Change (P4C) Model.

Wilson AL, Harris SR

Physical & occupational therapy in pediatrics 2018; (38(2)):130-142 doi:10.1080/01942638.2017.1297988.

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.

Eskandrani A, AlHashem A, Ali ES, et al.

Pediatric neurology 2017; (71()):24-28 doi:10.1016/j.pediatrneurol.2017.03.019.

Determining Need for School-Based Physical Therapy Under IDEA: Commonalities Across Practice Guidelines.

Vialu C, Doyle M

Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association 2017; (29(4)):350-355 doi:10.1097/PEP.0000000000000448.

Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.

Kanack AJ, Newsom OJ, Scaglione KM

The Journal of biological chemistry 2018; (293(8)):2735-2743 doi:10.1074/jbc.RA117.000477.

Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Vogel AP, Rommel N, Oettinger A, et al.

Journal of neurology 2018; (265(9)):2060-2070 doi:10.1007/s00415-018-8950-4.

Recommended practices to organize and deliver school-based services for children with disabilities: A scoping review.

Anaby DR, Campbell WN, Missiuna C, et al.

Child: care, health and development 2019; (45(1)):15-27 doi:10.1111/cch.12621.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

Vill K, Müller-Felber W, Gläser D, et al.

Human genetics 2018; (137(11-12)):911-919 doi:10.1007/s00439-018-1952-6.

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS.

Rezende Filho FM, Parkinson MH, Pedroso JL, et al.

Parkinsonism & related disorders 2019; (62()):148-155 doi:10.1016/j.parkreldis.2018.12.024.

Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases.

von Stülpnagel C, Hartlieb T, Borggräfe I, et al.

Seizure 2019; (65()):131-137 doi:10.1016/j.seizure.2018.12.020.

Sacs R272C missense homozygous mice develop an ataxia phenotype.

Larivière R, Sgarioto N, Márquez BT, et al.

Molecular brain 2019; (12(1)):19 doi:10.1186/s13041-019-0438-3.

Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Briand MM, Rodrigue X, Lessard I, et al.

Journal of the neurological sciences 2019; (400()):39-41 doi:10.1016/j.jns.2019.03.008.

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.

Tulli S, Del Bondio A, Baderna V, et al.

Journal of medical genetics 2019; (56(8)):499-511 doi:10.1136/jmedgenet-2018-105766.

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.

Kuchay RAH, Mir YR, Zeng X, et al.

Cerebellum (London, England) 2019; (18(4)):807-812 doi:10.1007/s12311-019-01028-2.

Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene.

Van Beusichem AE, Nicolai J, Verhoeven J, et al.

Neuropediatrics 2020; (51(2)):146-153 doi:10.1055/s-0039-3400988.

Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the Netherlands.

van Lith BJH, Kerstens HCJW, van den Bemd LAC, et al.

Orphanet journal of rare diseases 2020; (15(1)):64 doi:10.1186/s13023-020-1338-4.

Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.

Chen DH, Latimer C, Yagi M, et al.

Neurology. Genetics 2020; (6(2)):1-13 doi:10.1212/NXG.0000000000000397.

Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.

Schiavoni S, Spagnoli C, Rizzi S, et al.

Developmental medicine and child neurology 2020; (62(9)):1068-1074 doi:10.1111/dmcn.14547.

Spinocerebellar ataxia type 48: last but not least.

De Michele G, Galatolo D, Barghigiani M, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020; (41(9)):2423-2432 doi:10.1007/s10072-020-04408-3.

CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons.

Schuster S, Heuten E, Velic A, et al.

Disease models & mechanisms 2020; (13(10)) doi:10.1242/dmm.045096.

Experiences and Needs of Parents Caring for Children with Cerebral Palsy: A Systematic Review.

Elangkovan IT, Shorey S

Journal of developmental and behavioral pediatrics : JDBP 2020; (41(9)):730-739 doi:10.1097/DBP.0000000000000880.

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.

Ravel JM, Benkirane M, Calmels N, et al.

Journal of neurology 2021; (268(5)):1927-1937 doi:10.1007/s00415-020-10348-x.

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.

Djordjevic D, Pinard M, Gauthier MS, et al.

American journal of human genetics 2021; (108(1)):186-193 doi:10.1016/j.ajhg.2020.12.002.

Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.

Longo F, De Ritis D, Miluzio A, et al.

Neurology 2021; (97(23)):e2315-e2327 doi:10.1212/WNL.0000000000012962.

The use of intrathecal baclofen for management of spasticity in hereditary spastic paraparesis: A case series.

Pointon R, Whelan H, Raza R, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2022; (36()):14-18 doi:10.1016/j.ejpn.2021.11.003.

Epilepsy with myoclonic-atonic seizures, also known as Doose syndrome: Modification of the diagnostic criteria.

Oguni H

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2022; (36()):37-50 doi:10.1016/j.ejpn.2021.11.009.

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Méreaux JL, Banneau G, Papin M, et al.

Brain : a journal of neurology 2022; (145(3)):1029-1037 doi:10.1093/brain/awab386.

Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis.

Lan Y, Yi S, Li M, et al.

Frontiers in genetics 2021; (12()):783841 doi:10.3389/fgene.2021.783841.

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.

Çakar A, İnci M, Özdağ Acarlı AN, et al.

Acta neurologica Scandinavica 2022; (145(5)):619-626 doi:10.1111/ane.13592.

Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature.

Panwala TF, Garcia-Santibanez R, Vizcarra JA, et al.

Pediatric neurology 2022; (130()):7-13 doi:10.1016/j.pediatrneurol.2022.02.007.

Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases.

Smits RM, Vissers E, Te Pas R, et al.

Orphanet journal of rare diseases 2022; (17(1)):153 doi:10.1186/s13023-022-02305-w.

The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP.

Umano A, Fang K, Qu Z, et al.

The Journal of biological chemistry 2022; (298(5)):101899 doi:10.1016/j.jbc.2022.101899.

Treatment and Management of Autosomal Recessive Cerebellar Ataxias: Current Advances and Future Perspectives.

Salem IH, Beaudin M, Klein CJ, Dupré N

CNS & neurological disorders drug targets 2023; (22(5)):678-697 doi:10.2174/1871527321666220418114846.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM, Adam S, du Souich C, et al.

HGG advances 2022; (3(3)):100108 doi:10.1016/j.xhgg.2022.100108.

Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.

Ashrafi MR, Mohammadi P, Tavasoli AR, et al.

Cerebellum (London, England) 2023; (22(4)):640-650 doi:10.1007/s12311-022-01430-3.

The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics.

Francis V, Alshafie W, Kumar R, et al.

The Journal of biological chemistry 2022; (298(9)):102320 doi:10.1016/j.jbc.2022.102320.

Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences.

Martinussen J, Chalk M, Elliott J, Gallacher L

Journal of personalized medicine 2022; (12(8)) doi:10.3390/jpm12081250.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.

Sharma R, Aravindhan A, Puente C, Veerapandiyan A

Journal of investigative medicine high impact case reports 2022; (10()):23247096221139670 doi:10.1177/23247096221139670.

Needs of informal caregivers of people with a rare disease: a rapid review of the literature.

Mcmullan J, Lohfeld L, McKnight AJ

BMJ open 2022; (12(12)):e063263 doi:10.1136/bmjopen-2022-063263.

A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation.

Mori T, Sakamoto M, Tayama T, et al.

Brain & development 2023; (45(7)):395-400 doi:10.1016/j.braindev.2023.03.001.

Novel compound heterozygous mutations in the AFG3L2 gene in a Chinese child with microcephaly, early-onset seizures, and cerebral atrophy.

Jin T, Kuang Y, Luo S, et al.

Heliyon 2023; (9(4)):e14766 doi:10.1016/j.heliyon.2023.e14766.

In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Louit A, Beaudet MJ, Blais M, et al.

Stem cells international 2023; (2023()):1496597 doi:10.1155/2023/1496597.

Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.

Lessard I, Côté I, St-Gelais R, et al.

Cerebellum (London, England) 2024; (23(2)):489-501 doi:10.1007/s12311-023-01558-w.

Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model.

Del Bondio A, Longo F, De Ritis D, et al.

JCI insight 2023; (8(12)).

The hereditary spastic paraplegias.

Fink JK

Handbook of clinical neurology 2023; (196()):59-88 doi:10.1016/B978-0-323-98817-9.00022-3.

Caring for Children with Dravet Syndrome: Exploring the Daily Challenges of Family Caregivers.

Domaradzki J, Walkowiak D

Children (Basel, Switzerland) 2023; (10(8)) doi:10.3390/children10081410.

Gait analysis patterns and rehabilitative interventions to improve gait in persons with hereditary spastic paraplegia: a systematic review and meta-analysis.

Faccioli S, Cavalagli A, Falocci N, et al.

Frontiers in neurology 2023; (14()):1256392 doi:10.3389/fneur.2023.1256392.

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.

Franchino CA, Brughera M, Baderna V, et al.

Brain : a journal of neurology 2024; (147(3)):1043-1056 doi:10.1093/brain/awad340.

Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.

Divya KP, Cherian A, Dhing HK, et al.

Acta neurologica Belgica 2024; (124(2)):475-484 doi:10.1007/s13760-023-02400-0.

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.

Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound.

Kneer K, Straub S, Wittlinger J, et al.

Journal of neurology 2024; (271(5)):2494-2502 doi:10.1007/s00415-023-12159-2.

An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study.

Scaravilli A, Gabusi I, Mari G, et al.

Journal of neurology 2024; (271(8)):5468-5477 doi:10.1007/s00415-024-12505-y.

Invisible patients in rare diseases: parental experiences with the healthcare and social services for children with rare diseases. A mixed method study.

Domaradzki J, Walkowiak D

Scientific reports 2024; (14(1)):14016 doi:10.1038/s41598-024-63962-4.

Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Chamova T, Ivanova N, Cherninkova S, et al.

Molecular genetics & genomic medicine 2024; (12(7)):e2483 doi:10.1002/mgg3.2483.

POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.

De Dominicis A, Stregapede F, Colona VL, et al.

Seizure 2024; (121()):141-146 doi:10.1016/j.seizure.2024.08.012.

Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: Insights From a Case Series of Seven Patients-A Single-Center Study and Review of an Indian Cohort.

Raval MA, Holla VV, Kamble N, et al.

Journal of movement disorders 2024; (17(4)):430-435 doi:10.14802/jmd.24154.

Recognising the Parental Caregiver Burden of Children With Mental Disorders: A Systematic Mixed-Studies Review.

Pereira TL, Wichaikhum OA, Nantsupawat A, et al.

International journal of mental health nursing 2024; (33(6)):1941-1961 doi:10.1111/inm.13417.

Experiences in Coping with Stress-A Qualitative Study of Family Caregivers of Children with Medical Complexity.

Layshock MN, Porter AS, Bogetz JF, et al.

Children (Basel, Switzerland) 2024; (11(9)) doi:10.3390/children11091151.

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Symonds JD, Park KL, Mignot C, et al.

Epilepsia 2024; (65(11)):3303-3323 doi:10.1111/epi.18115.

ARSACS: Clinical Features, Pathophysiology and iPS-Derived Models.

Salem IH, Blais M, Zuluaga-Sánchez VM, et al.

Cerebellum (London, England) 2025; (24(1)):24 doi:10.1007/s12311-024-01777-9.

Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases.

Walkowiak D, Domaradzki J

Scientific reports 2025; (15(1)):6295 doi:10.1038/s41598-025-87251-w.

Gait Training for Walking Acquisition in a Child with Hereditary Spastic Paraplegia: A Case Report.

Abe H, Hanamachi M

Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association 2025; (37(3)):390-395 doi:10.1097/PEP.0000000000001208.

Biallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia.

Cortés-Rojas MC, Zarante-Bahamón AM, Ramón-Gómez JL

Movement disorders clinical practice 2025; (12(9)):1380-1384 doi:10.1002/mdc3.70092.

Selection of Clinical Outcome Assessments for Trial Readiness in ARSACS - 2-year Progression and Responsiveness to Change Part 2: Mobility, Balance, and Lower Limb Coordination.

Lessard I, Duchesne E, Hébert LJ, et al.

Cerebellum (London, England) 2025; (24(4)):95 doi:10.1007/s12311-025-01849-4.

Approach to Progressive Myoclonic Epilepsies: Clinical Clues for Genetic Testing.

Aripirala P, Jagtap SA

Journal of child neurology 2025; (40(8)):686-690 doi:10.1177/08830738251337972.

Caregivers' experiences and challenges of the diagnostic odyssey in Dravet syndrome.

Domaradzki J, Walkowiak D,

Orphanet journal of rare diseases 2025; (20(1)):234 doi:10.1186/s13023-025-03772-7.

Caregiving Burden and Quality of Life Among Parents of Individuals With Angelman Syndrome: Gender Differences and the Impact of Financial Well-Being.

Walkowiak D, Domaradzki J

Pediatric neurology 2025; (169()):31-39 doi:10.1016/j.pediatrneurol.2025.05.005.

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.

Enhancing care coordination for neurofibromatosis type 1 in primary care: insights and applications for rare diseases.

Evans W, Chauhan J, Imam A, Hayward J

Journal of community genetics 2025; (16(6)):747-757 doi:10.1007/s12687-025-00811-5.

A Systematic Review of School-Based Behavioral Interventions and the Symbolic Labor of Inclusion for Children with Chronic Illness.

Efthymiou E, Katsarou DV, Sofologi M, et al.

Healthcare (Basel, Switzerland) 2025; (13(16)) doi:10.3390/healthcare13161968.

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay with Early-Onset Epilepsy and Novel Clinical Features: A rare entity from Morocco in the Middle East and North Africa region.

Laaraje A, Alaoui B, Radi A, et al.

Sultan Qaboos University medical journal 2025; (25(1)):756-761 doi:10.18295/2075-0528.2906.

Frameshift and Copy Number Variants in SACS-Related Neuropathy.

Yuan JH, Higuchi Y, Ando M, et al.

Neurology. Genetics 2025; (11(6)):e200318 doi:10.1212/NXG.0000000000200318.

Deciphering Spastic Ataxia: Clinical and Genetic Profiles.

Damásio J, Santos M, Costa S, et al.

Neurology. Genetics 2025; (11(6)):e200331 doi:10.1212/NXG.0000000000200331.

Caregiver Burden and Support for People with Neurological Disorders: Findings from a Polish Cross-Sectional Study.

Pasek M, Strzesak Z, Goździalska A, Jochymek M

Journal of clinical medicine 2026; (15(2)) doi:10.3390/jcm15020674.

The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study.

Fortin J, Synofzik M, Pedneault-Tremblay ÉA, et al.

Movement disorders : official journal of the Movement Disorder Society 2026; (41(4)):1034-1040 doi:10.1002/mds.70201.

Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.

Safka Brozkova D, Paulasova Schwabova J, Vyhnalkova E, et al.

Human genomics 2026; (20(1)).

Expanding the Spectrum of AFG3L2 Mutations: A Case with Late-Onset Autosomal Recessive Spinocerebellar Ataxia from Iran.

Salari M, Sadeghzadeh S, Etemadifar M

Cerebellum (London, England) 2026; (25(2)).

Emotional dysregulation as a moderating factor on the relationship between the severity of anxiety and depressive symptoms and high caregiving intensity among mothers caring for children diagnosed with life-limiting conditions.

Ibdah RH, Zaben F, Al-Sarayreh R, Hamdan-Mansour A

Palliative & supportive care 2026; (24()):e106 doi:10.1017/S1478951526102211.

"Effects of robot-assisted gait training combined with traditional treatment in hereditary spastic paraplegia: An observational pilot cohort study".

Diella E, Malerba G, Biffi E, et al.

Scientific reports 2026; (16(1)).

Integrative Literature Review on the Lived Experiences of Parents of Children with a Rare Disease.

Guillari A, Ballfusha K, Palazzo C, et al.

Healthcare (Basel, Switzerland) 2026; (14(11)) doi:10.3390/healthcare14111437.

Loss of Function of AFG3L2 Leading to Developmental and Epileptic Encephalopathy.

Pan Z, Yang L, Tang H, et al.

CNS neuroscience & therapeutics 2026; (32(7)):e71013 doi:10.1002/cns.71013.

How We Approach Bridging Pediatric Sickle Cell Care and the School Experience.

Weaver MS, Brazley-Rodgers M, Cohen AD, et al.

Pediatric blood & cancer 2026; (73(9)):e70570 doi:10.1002/1545-5017.70570.

Diagnostic challenges and clinico-genetic features in ARSACS: A case series.

Viswanathan LG, Madhu N, Seshagiri DV, et al.

Current journal of neurology 2025; (24(3)):212-218 doi:10.18502/cjn.v24i3.21600.

Strengthening School-Based Support Systems for Children and Youth With Developmental Coordination Disorder: A National Survey of Canadian Parents.

Klein ES, Pereira N, Gill A, Zwicker JG

Child: care, health and development 2026; (52(5)):e70339 doi:10.1111/cch.70339.

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.

Comparison of parental caregivers and associated factors with caregiver burden in rare paediatric diseases.

Brandt M, Inhestern L, Zybarth D, et al.

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