Spastic paraplegia type 2

General Information (adopted from Orphanet):

Synonyms, Signs: SPG2
SPPX2
X-linked spastic paraplegia type 2
Spastic gait type 2
Spastic paraparesis type 2
Number of Symptoms 41
OrphanetNr: 99015
OMIM Id: 312920
ICD-10: G11.4
UMLs: C1839264
MeSH: C536857
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 100 cases [Orphanet]
Inheritance: X-linked recessive
X-linked
24954637 [IBIS]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Leukodystrophy
 -Rare genetic disease
 -Rare neurologic disease
Pure or complex X-linked spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease
X-linked recessive optic atrophy
 -Rare eye disease
 -Rare genetic disease

Comment:

Aliases: GPM6C, HLD1, MMPL, PLP, PLP/DM20, PMD, SPG2

Symptom Information: Sort by abundance 

1
 (HPO:0000648) Optic atrophy 238 / 7739
2
 (HPO:0000639) Nystagmus Occasional [Orphanet] 24954637 IBIS 555 / 7739
3
 (HPO:0002204) Pulmonary embolism Occasional [Orphanet] 26 / 7739
4
 (HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
5
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
6
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
7
 (HPO:0007340) Lower limb muscle weakness 61 / 7739
8
 (HPO:0003474) Sensory impairment Occasional [Orphanet] 54 / 7739
9
 (HPO:0001271) Polyneuropathy 24954637 IBIS 56 / 7739
10
 (HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 76 / 7739
11
 (HPO:0001251) Ataxia 24954637 IBIS 413 / 7739
12
 (HPO:0001310) Dysmetria 76 / 7739
13
 (HPO:0002066) Gait ataxia Occasional [Orphanet] 327 / 7739
14
 (HPO:0002071) Abnormality of extrapyramidal motor function Frequent [Orphanet] 76 / 7739
15
 (HPO:0003487) Babinski sign 179 / 7739
16
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
17
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
18
 (HPO:0002061) Lower limb spasticity 56 / 7739
19
 (HPO:0002313) Spastic paraparesis 33 / 7739
20
 (HPO:0001258) Spastic paraplegia 97 / 7739
21
 (HPO:0002064) Spastic gait 46 / 7739
22
 (HPO:0001260) Dysarthria 329 / 7739
23
 (HPO:0001249) Intellectual disability 24954637 IBIS 1089 / 7739
24
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
25
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
26
 (HPO:0001250) Seizures 24954637 IBIS 1245 / 7739
27
 (HPO:0001761) Pes cavus 225 / 7739
28
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
29
 (HPO:0002607) Bowel incontinence Frequent [Orphanet] 33 / 7739
30
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
31
 (HPO:0011037) Decreased urine output Frequent [Orphanet] 47 / 7739
32
 (HPO:0001371) Flexion contracture 220 / 7739
33
 (HPO:0001317) Abnormality of the cerebellum 36 / 7739
34
 (HPO:0002500) Abnormality of the cerebral white matter 24954637 IBIS 73 / 7739
35
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
36
 (HPO:0002314) Degeneration of the lateral corticospinal tracts 9 / 7739
37
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
38
 (HPO:0003812) Phenotypic variability 129 / 7739
39
 (HPO:0002503) Spinocerebellar tract degeneration 8 / 7739
40
 (MedDRA:10003694) Atrophy 7 / 7739
41
 (OMIM) Upper limb involvement 4 / 7739

Associated genes:

PLP1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Some forms of SPG are considered ...
Clinical Description OMIM Johnston and McKusick (1962) reported a kindred in which the disorder began as 'pure' spastic paraparesis, but the patients later developed nystagmus, dysarthria, sensory disturbance, and mental retardation, with half the patients having optic atrophy. Later symptoms included ...
Molecular genetics OMIM While narrowing the genetic interval containing the SPG2 gene in the X-linked SPG family reported by Bonneau et al. (1993), Saugier-Veber et al. (1994) found that the gene for proteolipid protein was the closest marker, implicating PLP as ...