Hereditary Spastic Paraplegia Type 11: A Comprehensive Case Report.

Mymensingh Med JOct 1, 2026
Case ReportMedical GeneticsNeurology

S H Siddik, T S Sumaiya, M Foysal et al.

✦ AI-curated · Sources linked

Case in brief

An 18-year-old woman with no significant medical history presented with a 2-year history of progressive weakness and stiffness in both lower limbs, leading to difficulty in walking. Genetic analysis revealed homozygous variations in the SPG11 gene, confirming a diagnosis of Hereditary Spastic Paraplegia Type 11. The case highlights the clinical and genetic features associated with this condition.

Diagnostic / clinical pearl

Clinicians should consider hereditary spastic paraplegia, particularly type 11, in young patients presenting with progressive lower limb weakness and stiffness, even in the absence of consanguinity.

Source

PubMed · PMID 42811870

Published in Mymensingh Med J. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

ShareTelegramLinkedIn

AI-generated summaries may contain errors or omissions. Verify clinically important information with the original publication.

More in Medical Genetics

Clinical ResearchHematology

Ponatinib-Blinatumomab or Imatinib-Chemotherapy for Adult Ph-Positive ALL.

This multicenter, phase 3 randomized trial compared frontline ponatinib plus blinatumomab with imatinib plus chemotherapy in adults with Philadelphia-positive acute lymphoblastic leukemia.

N Engl J MedOct 15, 2026Read summary
Clinical ResearchHematology

Efficacy and safety of mitapivat in patients with sickle cell disease (RISE UP): a phase 3, double-blind, global, randomised, placebo-controlled trial.

RISE UP was a phase 3, double-blind, global, randomised, placebo-controlled trial conducted at 69 sites in 15 countries. It evaluated twice-daily mitapivat in patients older than 16 years with sickle cell disease…

LancetOct 24, 2026Read summary
Clinical ResearchRheumatology

Ianalumab for the Treatment of Patients with Sjögren's Disease.

Two 52-week, double-blind, randomized, placebo-controlled phase III trials evaluated monthly or less frequent ianalumab in patients with active Sjögren's disease.

N Engl J MedOct 22, 2026Read summary

Want this personalized?

Stop searching the literature. Choose what you follow and xxcode will build your personalized medical digest.

  • Your specialties
  • Your filters and thresholds
  • Clinical Research + Case Reports, tuned separately
  • Automatic weekly delivery
  • Audio and text
Create my personalized digestSee plans

Prefer listening? Personalized audio digests are available with Pro.

Stay updated for free

Get the 3 most interesting publications in one specialty each week.

Weekly email. Unsubscribe anytime.