Spastic Paraplegia 35, Autosomal Recessive

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OMIM 57 612319 Disease Ontology 12 DOID:0110786 ICD10 33 G11.4 Orphanet 59 ORPHA171629 ORPHA329308 ICD10 via Orphanet 34 G11.4 G23.0

UMLS via Orphanet 74 C3668943 MedGen 42 C3496228 C2676236 MeSH 44 D015419 SNOMED-CT via HPO 69 258211005 75088002 165232002 103606006 128602000 22066006 19373007 46252003 16110005 563001 76976005 193662007 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 192967009 8011004 95646004 298282001 32566006 394679006 23133003 204043002 278849000 312444006 228158008 72042002 414564002 246586009 366575004 252157006 255314001 425492002 253142006 6077001 8009008 39055007 162116003 300471006 more UMLS 73 C3496228 C3668943

UniProtKB/Swiss-Prot : ⁷⁵ Spastic paraplegia 35, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur.

MalaCards based summary : Spastic Paraplegia 35, Autosomal Recessive, also known as fatty acid hydroxylase-associated neurodegeneration, is related to paraplegia and hereditary spastic paraplegia, and has symptoms including ataxia, seizures and urgency of micturition. An important gene associated with Spastic Paraplegia 35, Autosomal Recessive is FA2H (Fatty Acid 2-Hydroxylase). Affiliated tissues include brain, globus pallidus and eye, and related phenotypes are spastic paraplegia and lower limb spasticity

OMIM : ⁵⁷ Autosomal recessive spastic paraplegia-35 is a complicated form of SPG characterized by childhood onset of gait difficulties due to progressive spastic paraparesis, dysarthria, and mild cognitive decline associated with leukodystrophy on brain imaging. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur (summary by Dick et al., 2010). In addition, some patients with mutations in the FA2H gene have radiographic evidence of neurodegeneration with brain iron accumulation (NBIA), thus expanding the phenotype. Kruer et al. (2010) referred to this phenotypic spectrum of disorders as fatty acid hydrolase-associated neurodegeneration (FAHN). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (612319)

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 329308Disease definitionFatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus.Visit the Orphanet disease page for more resources.

Genetics Home Reference : ²⁵ Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with movement and vision that begin during childhood or adolescence.

Disease Ontology : ¹² A hereditary spastic paraplegia that has material basis in mutation in the FA2H gene on chromosome 16q23.1.

GeneReviews: NBK56080

Clinical features from OMIM:

612319

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 35, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 35, Autosomal Recessive.