Table 1

Familial amyotrophic lateral sclerosis

ALS1 (21q22)*SOD115–20% of familial ALS, 1–2% of total ALSTypical ALS clinically but no TDP-43 staining at autopsy
ALS2 (2q33)AlsinRare recessive, mostly in inbred populationsAtypical. Juvenile onset upper motor neuron syndrome resembling primary lateral sclerosis
ALS3 (18q21)*UnknownOne familyTypical ALS
ALS4 (9q34)SenataxinVery rareAtypical. Young onset, slow progression, distal weakness with upper motor neuron features
ALS5 (15q15)UnknownRare recessiveAtypical. Juvenile onset disease with slow progression
ALS6 (16q12)*FUS3–5% of familial ALSTypical ALS
ALS7 (20p13)*Linkage unconfirmedOne familyTypical ALS
ALS8VAPBVery rare, mostly BrazilAtypical, variable, generally lower motor neuron
ALS9 (14q11)*AngiogeninRareTypical ALS
ALS10 (1p36)*TDP-431–3% of familial ALSTypical ALS
ALS-FTD9q21/9q21, othersVariableALS, frontotemporal dementia or both
  • *Those conditions where the clinical picture is indistinguishable from sporadic forms of the disease.

  • ALS, amyotrophic lateral sclerosis; FTD, frontotemporal dementia.