Juvenile primary lateral sclerosis

General Information (adopted from Orphanet):

Synonyms, Signs: PLS, JUVENILE
PLSJ
Juvenile PLS
Number of Symptoms 35
OrphanetNr: 247604
OMIM Id: 606353
ICD-10: G12.2
UMLs: C1853396
MeSH: C536416
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic motor neuron disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000079) Abnormality of the urinary system Occasional [Orphanet] 88 / 7739
2
 (HPO:0002491) Spasticity of facial muscles 3 / 7739
3
 (HPO:0000183) Difficulty in tongue movements 4 / 7739
4
 (HPO:0001152) Saccadic smooth pursuit 6 / 7739
5
 (HPO:0001285) Spastic tetraparesis 29 / 7739
6
 (HPO:0002193) Pseudobulbar behavioral symptoms 2 / 7739
7
 (HPO:0003487) Babinski sign 179 / 7739
8
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
9
 (HPO:0002200) Pseudobulbar signs 15 / 7739
10
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
11
 (HPO:0002064) Spastic gait 46 / 7739
12
 (HPO:0002464) Spastic dysarthria 5 / 7739
13
 (HPO:0002127) Abnormal upper motor neuron morphology 15 / 7739
14
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
15
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
16
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
17
 (HPO:0000712) Emotional lability Very frequent [Orphanet] 44 / 7739
18
 (HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 76 / 7739
19
 (HPO:0002501) Spasticity of pharyngeal muscles 3 / 7739
20
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
21
 (HPO:0003474) Sensory impairment Occasional [Orphanet] 54 / 7739
22
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
23
 (HPO:0007256) Abnormal pyramidal signs Very frequent [Orphanet] 116 / 7739
24
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
25
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (HPO:0002120) Cerebral cortical atrophy 187 / 7739
28
 (HPO:0003677) Slow progression 134 / 7739
29
 (HPO:0003621) Juvenile onset 105 / 7739
30
 (OMIM) Lateral corticospinal tracts show atrophy, pallor, and degeneration 1 / 7739
31
 (OMIM) Spasticity of lower and upper limbs 3 / 7739
32
 (OMIM) No sensory abnormalities 5 / 7739
33
 (OMIM) Absence of lower motor neuron involvement 2 / 7739
34
 (HPO:0011463) Childhood onset 65 / 7739
35
 (OMIM) Cortical atrophy with loss of pyramidal neurons in the motor cortex 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Although primary lateral sclerosis is similar to amyotrophic lateral sclerosis (ALS; 105400), they are considered to be clinically distinct progressive paralytic neurodegenerative disorders. Following a period of diagnostic confusion, the clinical distinction between ALS and PLS became clear ...
Clinical Description OMIM Stark and Moersch (1945) defined primary lateral sclerosis as a disease of lateral columns of the spinal cord, the corticospinal tracts. In a review of 60 cases, including 17 familial cases, the authors concluded that it was a ...
Molecular genetics OMIM In affected members of the Kuwaiti family reported by Lerman-Sagie et al. (1996), Hadano et al. (2001) identified a homozygous mutation in the ALS2 gene (606352.0004).

Yang et al. (2001) identified a homozygous deletion in the ...