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Autosomal recessive spastic paraplegia type 35
Disease definition
Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.
ORPHA:171629
Classification level: DisorderA summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)
Detailed information
General public
- Article for general public
- Français (2015, pdf) - Fondation Groupama
- Svenska (2020) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- Deutsch (2022) - AWMF
Disease review articles
- Clinical genetics review
- English (2018) - GeneReviews
Disability
- Disability factsheet
- Français (2018, pdf) - Orphanet


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.