Research & Literature

Synapse-Assembly Proteins Maintain Synaptic Vesicle Cluster Stability and Regulate Synaptic Vesicle Transport in Caenorhabditis elegans.

Edwards SL, Yorks RM, Morrison LM, et al.

Genetics 2015; (201(1)):91-116 doi:10.1534/genetics.115.177337.

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

Citterio A, Arnoldi A, Panzeri E, et al.

Journal of neurology 2015; (262(12)):2684-90 doi:10.1007/s00415-015-7899-9.

Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.

Hotchkiss L, Donkervoort S, Leach ME, et al.

Journal of child neurology 2016; (31(9)):1114-9 doi:10.1177/0883073816639718.

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings.

Ferreira P, Luco SM, Sawyer SL, et al.

Neurology. Genetics 2016; (2(1)):e38 doi:10.1212/NXG.0000000000000038.

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.

Krenn M, Zulehner G, Hotzy C, et al.

European journal of neurology 2017; (24(5)):741-747 doi:10.1111/ene.13279.

Isolated sulfite oxidase deficiency.

Claerhout H, Witters P, Régal L, et al.

Journal of inherited metabolic disease 2018; (41(1)):101-108 doi:10.1007/s10545-017-0089-4.

Kinesin-3 Responds to Local Microtubule Dynamics to Target Synaptic Cargo Delivery to the Presynapse.

Guedes-Dias P, Nirschl JJ, Abreu N, et al.

Current biology : CB 2019; (29(2)):268-282.e8 doi:10.1016/j.cub.2018.11.065.

'It would be much easier if we were just quiet and disappeared': Parents silenced in the experience of caring for children with rare diseases.

Currie G, Szabo J

Health expectations : an international journal of public participation in health care and health policy 2019; (22(6)):1251-1259 doi:10.1111/hex.12958.

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.

Huin V, Barbier M, Bottani A, et al.

Brain : a journal of neurology 2020; (143(1)):303-319 doi:10.1093/brain/awz377.

Social isolation and exclusion: the parents' experience of caring for children with rare neurodevelopmental disorders.

Currie G, Szabo J

International journal of qualitative studies on health and well-being 2020; (15(1)):1725362 doi:10.1080/17482631.2020.1725362.

KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.

Nemani T, Steel D, Kaliakatsos M, et al.

Journal of the peripheral nervous system : JPNS 2020; (25(2)):117-124 doi:10.1111/jns.12368.

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).

Kaur S, Van Bergen NJ, Verhey KJ, et al.

Human mutation 2020; (41(10)):1761-1774 doi:10.1002/humu.24079.

Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.

Montenegro-Garreaud X, Hansen AW, Khayat MM, et al.

Human mutation 2020; (41(12)):2094-2104 doi:10.1002/humu.24118.

A kinetic dissection of the fast and superprocessive kinesin-3 KIF1A reveals a predominant one-head-bound state during its chemomechanical cycle.

Zaniewski TM, Gicking AM, Fricks J, Hancock WO

The Journal of biological chemistry 2020; (295(52)):17889-17903 doi:10.1074/jbc.RA120.014961.

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.

Boyle L, Rao L, Kaur S, et al.

HGG advances 2021; (2(2)) doi:10.1016/j.xhgg.2021.100026.

Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.

Brunetti S, Malerba L, Giordano L, et al.

American journal of medical genetics. Part A 2021; (185(8)):2526-2531 doi:10.1002/ajmg.a.62345.

The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.

Aguilera C, Hümmer S, Masanas M, et al.

Frontiers in neuroscience 2021; (15()):618098 doi:10.3389/fnins.2021.618098.

Specific KIF1A-adaptor interactions control selective cargo recognition.

Hummel JJA, Hoogenraad CC

The Journal of cell biology 2021; (220(10)) doi:10.1083/jcb.202105011.

Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

Vecchia SD, Tessa A, Dosi C, et al.

Journal of neurology 2022; (269(1)):437-450 doi:10.1007/s00415-021-10792-3.

Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A.

Isobe K, Ieda D, Miya F, et al.

Brain & development 2022; (44(3)):249-253 doi:10.1016/j.braindev.2021.11.007.

Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder.

Chiba K, Kita T, Anazawa Y, Niwa S

Journal of cell science 2023; (136(5)) doi:10.1242/jcs.260742.

Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A.

Nakamura K, Yoshinaga T, Kodaira M, et al.

Internal medicine (Tokyo, Japan) 2023; (62(20)):3047-3051 doi:10.2169/internalmedicine.1184-22.

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

Paprocka J, Jezela-Stanek A, Śmigiel R, et al.

Genes 2023; (14(5)) doi:10.3390/genes14050972.

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.

Potic A, Perrier S, Radovic T, et al.

Orphanet journal of rare diseases 2023; (18(1)):187 doi:10.1186/s13023-023-02802-6.

[KIF1A gene-associated neurological disease: the correlation between genotype and phenotype].

Ortiz-Ortigosa A, Calvo-Medina R, Ruiz-García C, et al.

Revista de neurologia 2023; (77(6)):141-145 doi:10.33588/rn.7706.2023185.

Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.

Lin J, Li N, Yao R, et al.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2023; (52(6)):693-700 doi:10.3724/zdxbyxb-2023-0457.

Long-term clinical observation of patients with heterozygous KIF1A variants.

Kawashima A, Kodama K, Okubo Y, et al.

American journal of medical genetics. Part A 2024; (194(10)):e63656 doi:10.1002/ajmg.a.63656.

Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.

Sudnawa KK, Li W, Calamia S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2024; (26(8)):101169 doi:10.1016/j.gim.2024.101169.

Cryo-EM unveils kinesin KIF1A's processivity mechanism and the impact of its pathogenic variant P305L.

Benoit MPMH, Rao L, Asenjo AB, et al.

Nature communications 2024; (15(1)):5530 doi:10.1038/s41467-024-48720-4.

Ophthalmic Findings in the KIF1A-Associated Neurologic Disorder (KAND).

Abdelhakim AH, Brodie SE, Chung WK

American journal of ophthalmology 2024; (268()):247-257 doi:10.1016/j.ajo.2024.06.025.

A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis.

Bernard E, Cluse F, Bohic A, et al.

International journal of molecular sciences 2024; (25(15)) doi:10.3390/ijms25158170.

Kif1a and intact microtubules maintain synaptic-vesicle populations at ribbon synapses in zebrafish hair cells.

David S, Pinter K, Nguyen KK, et al.

The Journal of physiology 2025; (603(20)):6391-6421 doi:10.1113/JP286263.

Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.

Nóbrega PR, Paiva ARB, Amorim Junior AD, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(1)):101291 doi:10.1016/j.gim.2024.101291.

A Two-Heads-Bound State Drives KIF1A Superprocessivity.

Rao L, Wirth JO, Matthias J, Gennerich A

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.01.14.632505.

Understanding speech and language in KIF1A-associated neurological disorder.

Morison LD, Vogel AP, Christodoulou J, et al.

European journal of human genetics : EJHG 2026; (34(1)):78-89 doi:10.1038/s41431-025-01867-0.

Comparison of CO-OP and goal-directed training on occupational performance and functional status in children with cerebral palsy: Three-armed randomised trial.

Kolit Z, Temel RG, Ekici G

Australian occupational therapy journal 2025; (72(3)):e70033 doi:10.1111/1440-1630.70033.

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

Lin Q, Verden D, Christodoulou J, et al.

European journal of human genetics : EJHG 2026; (34(10)):1417-1431 doi:10.1038/s41431-025-01978-8.

Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.

Uhrova Meszarosova A, Galiart E, Lassuthova P, et al.

Frontiers in medicine 2025; (12()):1704209 doi:10.3389/fmed.2025.1704209.

Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development.

Aiken J, Borland C, Marotta N, et al.

bioRxiv : the preprint server for biology 2026; doi:10.64898/2026.01.14.699478.

"I felt like a lone ranger": experiences of Australian families living with KIF1A-Associated Neurological Disorder.

Miwa-Dale K, Norman K, Dawson-McClaren B, et al.

Journal of community genetics 2026; (17(3)).

KIF1A-Associated Neurological Disorder (KAND): Spectrum of Movement and Motor Disorders in a Cohort of 51 Patients.

Bernardi K, Ribeiro G, Battaglia N, et al.

Movement disorders : official journal of the Movement Disorder Society 2026; (41(10)):2737-2744 doi:10.1002/mds.70420.

Instrumented Three-Dimensional Gait Analysis in an Adult With KIF1A-Associated Neurological Disorder: A Case Report.

Pessoa AR, Portugal D, Pinho F, et al.

Cureus 2026; (18(7)):e112579 doi:10.7759/cureus.112579.

Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development.

Aiken J, Borland C, Marotta N, et al.

The Journal of cell biology 2026; (225(11)) doi:10.1083/jcb.202601034.

Integrating Single-Molecule Variant Phenotyping with Clinical Features Predicts Outcomes in KIF1A-Associated Neurological Disorder.

Rao L, Li W, Waxler J, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.09.10.26362467.

Using Interpretative Phenomenological Analysis to Explore the Experiences of Mothers Who Have a Child With the Rare Genetic Disorder, HNRNPU-Related Neurodevelopmental Disorder: "Some Days, I Wear a Cape and I'm Super Mom and Some Days, I Have to Hide Under My Cape and I Can't Get Out for a Few Days".

Overton I, Docherty F, Balasubramanian M

Journal of genetic counseling 2026; (35(5)).