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Sporadic ALS: Common forms Clinical features Diagnostic criteria Differential diagnosis Discussion of diagnosis Epidemiology Laboratory features Pathology Prognosis Susceptibility loci 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 ALS-PD1 ALS-PD2 |
![]() 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 |
| FIG4
|
6q21 | Mutations |
| CHRNA3
CHRNA4 CHRNB4 |
15q25, 20q13, 15q24 |
Mutations33 |
| UNC13A
|
19p13.3 | Intron 21 link 34 |
| 9p21.2 | Linkage | |
Tongue in ALS: Weak with little wasting
At rest & Attempted protrusion |
Wasting of hands & arms in ALS |
![]() Medulla |
![]() Pons |
![]() Midbrain |
![]() Internal capsule |