Introduction
Materials and methods
Patient no. | 1 | 2 | 3 | 4a
| 5a
| 6a
| 7 |
Sex | Female | Male | Male | Male | Male | Female | Male |
Type of PCH | PCH-2 | PCH-2 | PCH-2 | PCH-2 | PCH-2 | PCH-2 | OPCH |
Parents, related | No | No | Yes | Yes | Yes | Uncertain | Yes |
Neonatal period | Poor swallowing | Poor swallowing, seizure | Unrest | Seizure | Poor swallowing | Poor swallowing, unrest | Absent spontaneous respiration, tremor/clonus |
Head circumference at birth | −1 SD | −2 SD | −2 SD | ||||
Microcephaly progressive after birth | + | + | + | + | + | + | |
Motor development after birth | No motor control, some visual pursuit | Minimal head control, some visual pursuit | Minimal head control, some visual pursuit | No motor control, some visual pursuit | No motor control, no visual pursuit | No motor control, no visual pursuit | |
Chorea/dystonia | + | + | + | + | Spasticity | + | Forced flexion of extremities |
Seizures | + | + | + | + | + | + | − |
Previous publication | Patient 9, [7] | Patient 11, [7] | Patient 7, [7] | Patient 3, [7] | – | – | – |
Age at death | 1 year 2 months | 12 years | 22 years 10 months | 15 years 6 months | 2 years 4 months | 3 years 7 months | 2 days |
Cause of death | Cot death | Hyperthermia | Cachexia | Pneumonia | Pneumonia | Hyperthermia, rhabdomyolysis | Absent spontaneous respiration |
Total brain weight (g) | 570 | 720 | 1,110 | After fixation, 687 | 660 | 660 | After fixation, 172 |
Control brain weight g ± SD* | 940 ± 120b
| 1440 ± 10b
| 1440 ± 20b
| 1410 ± 10b
| 1120 ± 200b
| 1090 ± 230b
| 433 ± 57c
|
Weight of cerebellum + brainstem | 32 | 16 | – | – | – | 12 | – |
Cerebellar cortex | Sparse segmental lesions in hemispheres; diffuse loss of P- and granule cells | Sparse segmental lesions in vermis and hemispheres; diffuse loss of all P- and granule cells | Near total destruction, only GFAP positive outlines remaining | Segmental lesions in hemispheres; diffuse loss of all P and granule cells | Segmental lesions in vermis and hemispheres; diffuse loss of all P and granule cells | Segmental lesions in vermis and hemispheres; diffuse loss of all P and granule cells | Major (dorsal) part of vermis and hemispheres “denuded”, sparing of flocculus and nodulus |
Dentate nucleus | Islands | Iislands | No remnants | Islands | Islands | Islands | Islands |
Cerebellar cysts | − | − | + | − | + | − | − |
Inferior olivary nucleus | Reduced folding; segmental lesions | Reduced folding; segmental lesions | Total loss of structure | Reduced folding; segmental lesions | Reduced folding; segmental lesions | Reduced folding; segmental lesions | No folding |
Ventral pons | Loss of nuclei, transverse fibers | Loss of nuclei, transverse fibers | Loss of nuclei, transverse fibers | Loss of nuclei, transverse fibers | Loss of nuclei, transverse fibers | Loss of nuclei, transverse fibers | Loss of nuclei, transverse fibers |