Autosomal recessive spastic paraplegia type 26

General Information (adopted from Orphanet):

Synonyms, Signs: SPG26
Number of Symptoms 36
OrphanetNr: 101006
OMIM Id: 609195
ICD-10: G11.4
UMLs: C1836632
MeSH: C536862
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive complex spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000012) Urinary urgency rare [HPO:skoehler] 35 / 7739
2
(HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
3
(HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
4
(HPO:0010697) Anterior pyramidal cataract 22 / 7739
5
(HPO:0001332) Dystonia 197 / 7739
6
(HPO:0002355) Difficulty walking 61 / 7739
7
(HPO:0000712) Emotional lability 44 / 7739
8
(HPO:0001258) Spastic paraplegia 97 / 7739
9
(HPO:0003487) Babinski sign 179 / 7739
10
(HPO:0001256) Intellectual disability, mild 141 / 7739
11
(HPO:0001315) Reduced tendon reflexes 160 / 7739
12
(HPO:0002064) Spastic gait 46 / 7739
13
(HPO:0002061) Lower limb spasticity 56 / 7739
14
(HPO:0001260) Dysarthria 329 / 7739
15
(HPO:0001310) Dysmetria 76 / 7739
16
(HPO:0001284) Areflexia 198 / 7739
17
(HPO:0001347) Hyperreflexia 363 / 7739
18
(HPO:0001265) Hyporeflexia 208 / 7739
19
(HPO:0100660) Dyskinesia 19 / 7739
20
(HPO:0001251) Ataxia 413 / 7739
21
(HPO:0002359) Frequent falls 24 / 7739
22
(HPO:0001761) Pes cavus 225 / 7739
23
(HPO:0002650) Scoliosis 705 / 7739
24
(HPO:0003693) Distal amyotrophy 118 / 7739
25
(OMIM) Mental retardation, mild to moderate 33 / 7739
26
(HPO:0040083) Toe walking 15 / 7739
27
(OMIM) Decreased testosterone 2 / 7739
28
(HPO:0001317) Abnormality of the cerebellum 36 / 7739
29
(OMIM) White matter hyperintensities 1 / 7739
30
(OMIM) Saccadic pursuit 7 / 7739
31
(OMIM) Upper limb involvement 4 / 7739
32
(OMIM) Axonal sensorimotor neuropathy 6 / 7739
33
(HPO:0040171) Decreased serum testosterone level rare [HPO:skoehler] 2 / 7739
34
(HPO:0003677) Slow progression 134 / 7739
35
(HPO:0003676) Progressive disorder 148 / 7739
36
(HPO:0002120) Cerebral cortical atrophy 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional ...
Clinical Description OMIM Farag et al. (1994) reported a consanguineous Kuwaiti family in which 5 sibs had complicated spastic paraplegia. At age 8 years, the proband developed progressive dysarthria and walking difficulties with high step and frequent falls. Clinical examination at ...
Molecular genetics OMIM By exome sequencing of 5 families with autosomal recessive SPG, Boukhris et al. (2013) identified 5 different homozygous mutations in the B4GALNT1 gene. The mutations segregated with the disorder in the family and were not found in large ...