Skip to main content

Advertisement

SpringerLink
Log in

Illustration of a rare case of hereditary spastic paraplegia type 30 associated with a missense variant in the non-motor domain of KIF1A

  • Letter to the Editors
  • Published:
Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

References

  1. Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, Massouras A (2019) VarSome: the human genomic variant search engine. Bioinformatics 35(11):1978–1980

    Article  CAS  Google Scholar 

  2. Klebe S, Azzedine H, Durr A, Bastien P, Bouslam N, Elleuch N, Forlani S, Charon C, Koenig M, Melki J, Brice A, Stevanin G (2006) Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q373. Brain 129(Pt 6):1456–1462

    Article  Google Scholar 

  3. Krenn M, Zulehner G, Hotzy C, Rath J, Stogmann E, Wagner M, Haack TB, Strom TM, Zimprich A, Zimprich F (2017) Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. Eur J Neurol 24(5):741–747

    Article  CAS  Google Scholar 

  4. Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O (2011) Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res 21(5):658–664

    Article  CAS  Google Scholar 

  5. Klebe S, Lossos A, Azzedine H, Mundwiller E, Sheffer R, Gaussen M, Marelli C, Nawara M, Carpentier W, Meyer V, Rastetter A, Martin E, Bouteiller D, Orlando L, Gyapay G, El-Hachimi KH, Zimmerman B, Gamliel M, Misk A, Lerer I, Brice A, Durr A, Stevanin G (2012) KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. Eur J Hum Genet 20(6):645–649

    Article  CAS  Google Scholar 

  6. Vecchia SD, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Cioffi E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM (2021) Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review. J Neurol. https://doi.org/10.1007/s00415-021-10792-3

    Article  PubMed  Google Scholar 

  7. Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Decarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, Wagner JD, Boycott KM, Rahikkala E, Junna N, Tyynismaa H, Cuppen I, Verbeek NE, Stumpel CT, Willemsen MA, de Munnik SA, Rouleau GA, Kim E, Kamsteeg EJ, Kleefstra T, Michaud JL (2015) De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Hum Mutat 36(1):69–78

    Article  CAS  Google Scholar 

  8. Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, Elting MW, van de Kamp JM, van Spaendonck-Zwarts KY, Die-Smulders C, Brilstra EH, Verschuuren CC, de Vries BBA, Bruijn J, Sofou K, Duijkers FA, Jaeger B, Schieving JH, van de Warrenburg BP, Kamsteeg EJ (2020) KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. Eur J Hum Genet 28(1):40–49

    Article  CAS  Google Scholar 

  9. Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV (2020) KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families. BMC Neurol 20(1):290

    Article  CAS  Google Scholar 

  10. Boyle L, Rao L, Kaur S, Fan X, Mebane C, Hamm L, Thornton A, Ahrendsen JT, Anderson MP, Christodoulou J, Gennerich A, Shen Y, Chung WK (2021) Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder. HGG Adv. https://doi.org/10.1016/j.xhgg.2021.100026

    Article  PubMed  PubMed Central  Google Scholar 

  11. Citterio A, Arnoldi A, Panzeri E, Merlini L, D’Angelo MG, Musumeci O, Toscano A, Bondi A, Martinuzzi A, Bresolin N, Bassi MT (2015) Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. J Neurol 262(12):2684–2690

    Article  CAS  Google Scholar 

Download references

Funding

None.

Author information

Authors and Affiliations

  1. Neurology Clinic, Diskapi Yildirim Beyazit Training and Research Hospital, Şehit Ömer Halisdemir Street. No: 20 Altındag, Ankara, 06110, Turkey

    Halil Onder, Bilge Kocer & Selcuk Comoglu

  2. Koc University School of Medicine, Koc University Research Center for Translational Medicine (KUTTAM), Istanbul, Turkey

    Atay Vural

  3. Department of Medical Genetics, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey

    Neslihan Duzkale

Authors
  1. Halil Onder
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Atay Vural
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Neslihan Duzkale
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Bilge Kocer
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Selcuk Comoglu
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

Concept: AV, HO; design: HO, BK; supervision: HO, SC, AV; materials: HO; data collection and/or processing: HO, ND, AV; analysis and/or interpretation: HO, AV, ND; literature search: HO, BK; writing manuscript: HO, BK, AV; critical review: HO, SC.

Corresponding author

Correspondence to Halil Onder.

Ethics declarations

Conflicts of interest

None.

Ethical approval

This manuscript has been prepared in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

Informed consent

The informed consent form was obtained from the patient.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 Video 1. The neurological exam of the patient showing the cerebellar signs including dysmetria and intentional tremor. In the latter part of the video, spastic gait is demonstrated (MP4 256133 KB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Onder, H., Vural, A., Duzkale, N. et al. Illustration of a rare case of hereditary spastic paraplegia type 30 associated with a missense variant in the non-motor domain of KIF1A. J Neurol 269, 3343–3346 (2022). https://doi.org/10.1007/s00415-021-10924-9

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-021-10924-9

Search

Navigation