Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review

Spastic Paraplegia 15

Darius Ebrahimi-Fakhari  1 , Julian E Alecu  1 , Craig Blackstone  2
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
.
Affiliations
Free Books & Documents
Review

Spastic Paraplegia 15

Darius Ebrahimi-Fakhari et al.
Free Books & Documents

Excerpt

Clinical characteristics: Spastic paraplegia 15 (SPG15), typically an early-onset complex hereditary spastic paraplegia, is characterized by progressive spasticity that begins in the lower extremities and is associated with several manifestations resulting from central and peripheral nervous system dysfunction. While onset of spasticity is typically in mid- to late childhood or adolescence (i.e., between ages 5 and 18 years), other manifestations, such as developmental delay or learning disability, may be present earlier, often preceding motor involvement. Individuals with adult onset have also been reported.

Diagnosis/testing: The diagnosis of SPG15 is established in a proband with suggestive findings and biallelic pathogenic variants in ZFYVE26 identified by molecular genetic testing. Findings suggestive of SP15 on brain MRI may include thinning of the corpus callosum and characteristic signal changes in the periventricular white matter, known as the "ears of the lynx" sign.

Management: Treatment of manifestations: At present, no treatment prevents, halts, or reverses neuronal degeneration in SPG15. Treatment is directed at reducing symptoms and preventing secondary complications. Multidisciplinary care involving a neurologist, clinical geneticist, developmental specialist, orthopedic surgeon/physiatrist, physical therapist, occupational therapist, speech and language pathologist, and feeding and nutrition team is recommended.

Surveillance: Affected individuals should be evaluated periodically (i.e., every 6-12 months) by an interdisciplinary team to assess disease progression, maximize ambulation and communication skills, and reduce other manifestations.

Genetic counseling: SPG15 is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a ZFYVE26 pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the ZFYVE26 pathogenic variants have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

PubMed Disclaimer

Similar articles

  • Adenosine Deaminase Deficiency.
    Hershfield M, Tarrant T. Hershfield M, et al. 2006 Oct 3 [updated 2024 Mar 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2006 Oct 3 [updated 2024 Mar 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301656 Free Books & Documents. Review.
  • Beta-Thalassemia.
    Langer AL. Langer AL. 2000 Sep 28 [updated 2024 Feb 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2000 Sep 28 [updated 2024 Feb 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301599 Free Books & Documents. Review.
  • Alpha-Mannosidosis.
    Ficicioglu C, Stepien KM. Ficicioglu C, et al. 2001 Oct 11 [updated 2024 Jun 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2001 Oct 11 [updated 2024 Jun 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301570 Free Books & Documents. Review.
  • AP-4-Associated Hereditary Spastic Paraplegia.
    Alecu J, Schierbaum L, Ebrahimi-Fakhari D. Alecu J, et al. 2018 Dec 13 [updated 2025 Feb 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2018 Dec 13 [updated 2025 Feb 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 30543385 Free Books & Documents. Review.
  • Citrullinemia Type I.
    Quinonez SC, Lee KN. Quinonez SC, et al. 2004 Jul 7 [updated 2022 Aug 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2004 Jul 7 [updated 2022 Aug 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301631 Free Books & Documents. Review.
See all similar articles

References

    1. Araujo FMM, Junior WM, Tomaselli PJ, Pimentel AV, Macruz Brito MC, Tumas V. SPG15: a rare correlation with atypical juvenile parkinsonism responsive to levodopa. Mov Disord Clin Pract. 2020;7:842–4. - PMC - PubMed
    1. Bohannon RW, Smith MB. Interrater reliability of a modified Ashworth scale of muscle spasticity. Phys Ther. 1987;67:206–7. - PubMed
    1. Boukhris A, Stevanin G, Feki I, Denis E, Elleuch N, Miladi MI, Truchetto J, Denora P, Belal S, Mhiri C, Brice A. Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. Arch Neurol. 2008;65:393–402. - PubMed
    1. Chang J, Lee S, Blackstone C. Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation. J Clin Invest. 2014;124:5249–62. - PMC - PubMed
    1. Denora PS, Muglia M, Casali C, Truchetto J, Silvestri G, Messina D, Boukrhis A, Magariello A, Modoni A, Masciullo M, Malandrini A, Morelli M, de Leva MF, Villanova M, Giugni E, Citrigno L, Rizza T, Federico A, Pierallini A, Quattrone A, Filla A, Brice A, Stevanin G, Santorelli FM. Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. J Neurol Sci. 2009;277:22–5. - PubMed

LinkOut - more resources