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Front, Search, Index, Links, Pathology, Molecules, Syndromes, Muscle, NMJ, Nerve, Spinal, Ataxia, Antibody & Biopsy, Patient Info |
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Sporadic ALS: Common forms Clinical features Diagnostic criteria Differential diagnosis Discussion of diagnosis Epidemiology Laboratory features Pathology Prognosis Treatment Variants of ALS Hereditary ALS Primary lateral sclerosis Primary muscular atrophy Multisystem disorders + EOM & Extrapyramidal Δ Fronto-Temporal dementia Multiple system atrophy Polyglucosan body disease Western Pacific ALS |
![]() From NLM |
![]() MRI: FLAIR Motor Neuron Disease (Late)
Cerebral Peduncles: Hyperintensity |
Lou Gehrig & Babe Ruth |
| ALS:
Possible Susceptibility & Modifier Genes26 |
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| Gene | Locus | Variant |
| ApoE ε4
|
19q13 | ε4 genotype |
| CNTF
|
11q12 | Null allele |
| EAAT2
|
11p13 | Low expression |
| GluR2
|
4q32 | RNA editing Δ |
| NEFH
|
22q12 | KSP deletions |
| SMN1
|
5q12 | Copy number |
| SMN2
|
5q12 | Copy number |
| VEGF
|
6p12 | Promoter SNPs |
| Dynactin
|
2p13 | Mutations |
| PON1
|
7q21 | Linkage |
| FLJ10986
|
1 | Linkage |
| ITPR2
|
12p11 | Linkage |
| DPP6
|
7 | Linkage |
| Progranulin
|
17q21.3 | Mutations |
Tongue in ALS: Weak with little wasting
At rest & Attempted protrusion |
Wasting of hands & arms in ALS |
![]() Medulla |
![]() Pons |
![]() Midbrain |
![]() Internal capsule |