Atypical Presentation of Hereditary Sensory and Autonomic Neuropathy Type IIB : A Family of HSAN IIB With Spasticity Presentation and Review on Sensory Neuropathies With Spasticity
A 10-year-old boy from a consanguineous family presented with progressive lower-limb spasticity and a family history of painless, non-healing trophic ulcers of the lower limbs. Genetic testing identified a homozygous FAM134B mutation, confirming HSAN IIB and expanding its clinical spectrum with early pyramidal involvement.
Authors
- Diba Akbarzadeh (ORCID: https://orcid.org/0000-0001-9409-5300)
- Narjes Jafari (ORCID: https://orcid.org/0000-0002-7423-3814)
- Marzieh Babaee (ORCID: https://orcid.org/0000-0002-5714-7500)
- Mohadeseh Fathi
- Farzad Ahmadabadi (ORCID: https://orcid.org/0000-0002-8738-4398)
- Amin Jazayeri (ORCID: https://orcid.org/0009-0004-6254-9469)
Institutions
- Shahid Beheshti University (IR)
- Shahid Beheshti University of Medical Sciences (IR)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2026-10-29
- DOI
- https://doi.org/10.1002/ccr3.73764
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00