Table 1.
Overview of neuropathology, approximate global prevalence rates, and frequency of genetic and sporadic forms of major neurodegenerative diseases [3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29].
| NDD | Commonly Mutated Proteins | Primary Region of Damage | Compartment of Aggregate Deposition | Aggregate-Forming Proteins | Global Prevalence | Sporadic Cases | Familial Cases |
|---|---|---|---|---|---|---|---|
| AD | APP, presenilins | Cortex, hippocampus | Extracellular, intracytoplasmic | Aβ (plaques), tau (tangles) | 593:100,000 | >98% | <2% |
| PD | α-synuclein, LRRK2 | Substantia nigra, cortex | Intracytoplasmic | α-synuclein (Lewy bodies) | 1–2:1000 | >90% | <10% |
| HD | Htt | Striatum, basal ganglia | Intranuclear, intracytoplasmic | Htt | 1:10,000 | 3% | 97% |
| ALS | TDP-43, SOD1, c9orf72 | Spinal motor neurons, motor cortex | Intracytoplasmic | SOD1, TDP-43 | 5:100,000 | 90–95% | 5–10% |
| MS | - | Basal ganglia, brainstem | Intracytoplasmic, extracellular | Aβ, tau, APP, bassoon protein | 30.1:100,000 | 80–90% | 10–20% |
| SCAs | ATX1, ATX2, ATX3, CACNA1A, ATX7, TBP, ATN1 | Cerebellum, brainstem | Intranuclear | Atrophin-1, ataxins | 3:100,000 | No data | No data |
| TSEs | PrP | Cortex, brainstem, thalamus, cerebellum | Extracellular | PrP | 1–2:1,000,000 | 85–90% | 10–15% |
Abbreviations: APP, Amyloid precursor protein; LRRK2, Leucine-rich repeat kinase-2; Htt, Huntingtin; TDP-43, TAR DNA-binding protein 43; c9orf72, Chromosome 9 open reading frame 72; SOD1, Superoxide dismutase 1; ATX, ataxins; CACNA1A, Voltage-gated calcium channel subunit α1A; TBP, TATA-binding protein; ATN1, atrophin 1; PrP, Prion protein.