Table 1.
Summary of pedunculopontine nucleus involvement in dystonia-related autopsy reports.
| Report | Diagnosis | Age at onset/death, yr | Family history | Gender | Genotype | Phenotype | PPN pathology | Other neuropathology |
|---|---|---|---|---|---|---|---|---|
| Isolated dystonia | ||||||||
| Zweig et al. (10) | DMD | 14/29 | Likely | M | - | Dystonic posturing of right foot and both hands, mild head forward, hypomimia | Occasional NFTs | Neural loss in LC; NFTs in LC, SNpc and DRN |
| Meige syndrome | 33/68 | - | M | - | Oromandibular dystonia, occasional blepharospasm, Retrocollis | Neural loss | Neural loss in SNpc, DRN and LC and CSRN; astrocytic proliferation and extracellular neuromelanin pigment in SN and LC; infrequent NFTs in SN | |
| McNaught et al. (8) | DMD | 5/83 | Yes | F | DYT1-GAG deletion | No details | Perinuclear ubiquitin and torsinA-positive inclusions in cholinergic neurons | Ubiquitin and torsinA-positive inclusions in RF, PAG, SC, CN and griseum centrale mesencephali; Tau and ubiquitin-positive inclusions in SNpc and LC |
| Focal non-progressive dystonia | 19/86 | Yes | M | DYT1-GAG deletion | ||||
| DMD | 10/78 | Yes | M | DYT1-GAG deletion | ||||
| Generalized dystonia | 8/33 | Likely | M | DYT1-GAG deletion | ||||
| Mente et al. (9) | CD | 47/52 | - | F | - | Left torticollis | Cholinergic neural loss | None |
| CD | 40/65 | - | F | - | Right laterocollis | |||
| CD | Unknown/70 | - | M | - | No details | |||
| CD | 53/75 | – | F | - | No details | |||
| CD | Unknown/78 | - | F | - | No details | |||
| CD | Unknown/81 | - | F | - | Dystonic head tremor | |||
| CD | 41/84 | - | F | - | Left laterocollis | |||
| CD | Unknown/85 | - | F | - | Dystonic head tremor | |||
| Combined dystonia | - | |||||||
| Sasaki et al. (57) | Early onset Parkinson's disease | 33/70 | - | F | Parkin-homozygous exon 3 deletion | Juvenile parkinsonism, choreic dyskinesia of limb and trunk, gait disturbance, bilateral extension of big toes | Basophilic, α-synuclein and ubiquitin-positive inclusions | Melanin-containing neurons loss in SNpc and LC; extraneuronal melanin pigments in LC |
CD, cervical dystonia; CN, cuneiform nucleus; CSRN, central superior raphe nucleus; DMD, dystonia musculorum deformans; DRN, dorsal raphe nucleus; LC, locus ceruleus; NFTs, neurofibrillary tangles; PAG, periaqueductal gray; PPN, pedunculopontine nucleus; RF, reticular formation; SC, superior colliculus; SNpc, substantia nigra pars compacta.