Autosomal recessive spastic paraplegia type 35

General Information (adopted from Orphanet):

Synonyms, Signs: FATTY ACID HYDROXYLASE-ASSOCIATED NEURODEGENERATION
LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT DYSTONIA
FAHN
SPG35
Number of Symptoms 36
OrphanetNr: 171629
OMIM Id: 612319
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Pure or complex autosomal recessive spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000020) Urinary incontinence Occasional [HPO:probinson] 75 / 7739
2
 (HPO:0000012) Urinary urgency 35 / 7739
3
 (HPO:0000648) Optic atrophy 238 / 7739
4
 (HPO:0000544) External ophthalmoplegia Rare [HPO:probinson] 40 / 7739
5
 (HPO:0000639) Nystagmus 555 / 7739
6
 (HPO:0000602) Ophthalmoplegia 56 / 7739
7
 (HPO:0000597) Ophthalmoparesis 71 / 7739
8
 (HPO:0000486) Strabismus 576 / 7739
9
 (HPO:0001332) Dystonia 197 / 7739
10
 (HPO:0001251) Ataxia 413 / 7739
11
 (HPO:0001249) Intellectual disability 1089 / 7739
12
 (HPO:0002313) Spastic paraparesis 33 / 7739
13
 (HPO:0001268) Mental deterioration 88 / 7739
14
 (HPO:0003487) Babinski sign 179 / 7739
15
 (HPO:0001310) Dysmetria 76 / 7739
16
 (HPO:0011448) Ankle clonus Occasional [HPO:probinson] 31 / 7739
17
 (HPO:0001260) Dysarthria 329 / 7739
18
 (HPO:0001285) Spastic tetraparesis 29 / 7739
19
 (HPO:0001288) Gait disturbance 318 / 7739
20
 (HPO:0001258) Spastic paraplegia 97 / 7739
21
 (HPO:0001250) Seizures 1245 / 7739
22
 (HPO:0001347) Hyperreflexia 363 / 7739
23
 (HPO:0002355) Difficulty walking 61 / 7739
24
 (HPO:0002061) Lower limb spasticity 56 / 7739
25
 (MedDRA:10021639) Incontinence 11 / 7739
26
 (OMIM) White matter hyperintensities in T2 imaging 1 / 7739
27
 (HPO:0001272) Cerebellar atrophy 197 / 7739
28
 (OMIM) Spasticity, primarily lower limbs, but upper limbs may be involved 1 / 7739
29
 (HPO:0002518) Abnormality of the periventricular white matter 24 / 7739
30
 (OMIM) Iron deposition in the globus pallidus (variable) 1 / 7739
31
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
32
 (HPO:0003676) Progressive disorder 148 / 7739
33
 (HPO:0006978) Dysmyelinating leukodystrophy 2 / 7739
34
 (HPO:0002180) Neurodegeneration 31 / 7739
35
 (OMIM) Brainstem atrophy 5 / 7739
36
 (OMIM) Leukodystrophy, dysmyelinating 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Dick et al. (2008) identified a large consanguineous Omani family in which 7 individuals had spastic paraplegia. Affected individuals presented between 6 and 11 years with foot drop and difficulty walking. There was rapid progression over the following ...
Molecular genetics OMIM In affected members of 2 unrelated consanguineous families with complicated spastic paraparesis and leukodystrophy, Edvardson et al. (2008) identified a homozygous mutation in the FA2H gene (611026.0001). Affected individuals from a third family with spastic paraparesis were found ...