Table 1. Neurodegenerative diseases: symptoms, pathology and associated genetic linkage.
| Disease | Symptoms | Pathology | Gene map locus | Locus name | Associated gene |
|---|---|---|---|---|---|
| Alzheimer's disease (AD) | Dementia | Amyloid-containing plaques in cortex | 21q21 | AD1 | Amyloid precursor protein |
| Apraxia | Neurofibrillary tangles | 19q13.2 | AD2 | Apolipoprotein E (APOE) | |
| Aphasia | 14q24.3 | AD3 | Presenilin-1 (PSEN1) | ||
| Depression, anxiety and delusions | 1q31–q42 | AD4 | Presenilin-2 (PSEN2) | ||
| Short attention span | 12p11.23– q13.12 | AD5 | Not yet determined | ||
| Visuospatial navigation deficits | 10q24 | AD6 | Not yet determined | ||
| 10p13 | AD7 | Not yet determined | |||
| 20p | AD8 | Not yet determined | |||
| 19p13.2 | AD9 | Not yet determined | |||
| 7q36 | AD10 | Not yet determined | |||
| 9q22.1 | AD11 | Not yet determined | |||
| 8p12–q22 | AD12 | Not yet determined | |||
| 1q21 | AD13 | Not yet determined | |||
| 1q25 | AD14 | Not yet determined | |||
| 3q22–q24 | AD15 | Not yet determined | |||
| Xq21.3 | AD16 | Not yet determined | |||
| Amyotrophic lateral sclerosis (ALS) | Muscle weakness and wasting | Loss of lower motor neurons in ventral horn of spinal cord | 21q22.1 | ALS1 | Superoxide dismutase-1 (SOD1) |
| Muscle fasciculations and cramping | Degeneration of corticospinal tracts | 2q33 | ALS2 | Alsin | |
| Impaired limb dexterity | Neurodegeneration in primary motor cortex | 18q21 | ALS3 | Not yet determined | |
| Respiratory failure | Reactive astrocytes in motor cortex and spinal cord | 9q34 | ALS4 | Senataxin (SETX) | |
| Dysphagia and aspiration | Cytoplasmic inclusions in degenerating neurons | 15q15.1–q21.1 | ALS5 | Not yet determined | |
| Hypophonic speech | 16q12 | ALS6 | Fused in sarcoma (FUS) | ||
| 20p13 | ALS7 | Not yet determined | |||
| 20q13.3 | ALS8 | Vesicle-associated membrane protein-associated protein B (VAPB) | |||
| 14q11.2 | ALS9 | Angiogenin (ANG) | |||
| 1p36.2 | ALS10 | TAR DNA Binding protein (TARDBP) | |||
| 6q21 | ALS11 | Homolog of yeast FIG 4 | |||
| 10p15–p14 | ALS12 | Optineurin | |||
| Huntington's disease (HD) | Choreiform movements | Loss of neurons in caudate and putamen | 4pl6.3 | ITI5 | Huntingtin |
| Depression | Gliosis in striatum | ||||
| Dementia | |||||
| Emotional incontinence | |||||
| Parkinson's disease (PD) | Resting tremor | Loss of neurons in substantia nigra | 4q21 | PARK1 | Synuclein (SNCA) |
| Muscle rigidity | Cytoplasmic inclusions in degeneration neurons (Lewy bodies) | 6q25.2–q27 | PARK2 | Parkin | |
| Bradykinesia | 2p13 | PARK3 | Not yet determined | ||
| Postural instability | 4q21 | PARK4 | Synuclein (SNCA) | ||
| Cognitive decline | 4p14 | PARK5 | Ubiquitin C-ternubak esterase L1 (UCHL1) | ||
| Depression | 1p36 | PARK6 | PTEN-induced putative kinase1 (PINK1) | ||
| Physical discomfort | 1p36 | PARK7 | DJ1 | ||
| 12q12 | PARK8 | Leucine-rich repeat 2 (LRRK2) | |||
| 1p36 | PARK9 | ATP13A2 | |||
| 1p32 | PARK10 | Not yet determined | |||
| 2q37.1 | PARK11 | GRB10-interacting GYF protein (GIGYF2) | |||
| Xq21–q25 | PARK12 | Not yet determined | |||
| 2p12 | PARK13 | HTRA serine peptidase 2 (HTRA2) | |||
| 18q11 | PARK14 | Not yet determined | |||
| 22q12–q13 | PARK15 | FBX07 | |||
| 1q32 | PARK16 | Not yet determined |
Gene map locus, locus name and associated gene information based on Online Mendelian Inheritance in Man (OMIM) database at http://www.ncbi.nlm.nih.gov/omim/