Atlas of the Human Genome

28 genes converging on synapse formation and neuronal development. Heritability of 60–90%.

Dopamine, noradrenaline and the first genome-wide significant loci. One of the most heritable disorders.

The extra chromosome: explore trisomy 21, its mechanisms and the dosage-sensitive genes of chromosome 21.

A gene that switches off when a CGG repeat grows. The most common monogenic cause of autism.

23 genes around α-synuclein, mitochondria and lysosomes. GBA and LRRK2 as key factors.

Amyloid, tau and microglia. APOE ε4 as the main common risk factor; 75 risk loci.

A single gene (HTT) and the CAG triplet expansion. Autosomal dominant inheritance and modifier genes.

21 genes and motor neuron disease. C9orf72 as the most common cause; SOD1 with targeted therapy.

A family of ataxias caused by CAG/polyglutamine expansion —like Huntington's— that degenerates the cerebellum. Dominant inheritance and anticipation.

Degeneration of the frontal and temporal lobes: it changes behaviour and language. Shares genes with ALS (C9orf72, TDP-43).

The most common inherited ataxia: a GAA repeat lowers frataxin and damages mitochondria, the cerebellum and the heart. Recessive.

Loss of the SMN1 gene that damages motor neurons. Recessive, modulated by SMN2, and the great gene-therapy success story.