Table 2.
Clinical information of the patients with variants in MINPP1.
| Family | CerID-30 | CerID-30 | CerID-09 | CerID-11 | TR-PCH-01 | PCH-2712 | PCH-2456 | PCH-2456 |
|---|---|---|---|---|---|---|---|---|
| Subject | CerID-30-1 | CerID-30-2 | CerID-09-2 | CerID-11-1 | TR-PCH-01-1 | 2712-2-1 | 2456-5-2 | 2456-5-3 |
| Gender F/M | F | F | M | F | M | F | M | F |
| Origin (country) | Tunisia | Tunisia | Tunisia | France | France | Turkey | Egypt | Egypt |
| Documented consanguinity | No | No | Yes | No | Yes | Yes | Yes | Yes |
| Age at last follow-up | 12 years | 9 years | 11 years | 18 months | 12 years | 2y10m | 4.5 years | 1.5 years |
| Weight at birth (kg) | 3.2 (M) | 4.2 (+2 SD) | 3.2 (M) | 2.4 (−2SD) | 3.710 | 3.0 (M) | 3.4 (M) | 3 (M) |
| Weight at last examination (kg) | 30 (−1.5 SD) | 23.4 (−0.5 SD) | 16.9 (−4SD) | 10 (−1SD) | 36 | 10.5 (−2SD) | 10.5 (−3SD) | 8.5 (−3SD) |
| Length at birth (cm) | 50 (M) | 51 (M) | 50.5 (M) | 43.5 (−3SD) | 50 | NA | 49.2 (M) | 47.5 (−1SD) |
| HC at birth (cm) | 34 (M) | 35 (+1 SD) | 35 (M) | 30.6 (−3SD) | 36 | 33 (−1SD) | 34 (M) | 32 (−1SD) |
| HC at last examination (cm, age) | 48 cm (8 years; −2SD) | 47 cm (4 years; −2SD) | 47 cm (11 years; −5SD) | 42 cm (18 months; −4SD) | −2,55 (18 months) | 41 cm (−5SD) | 44.5 (−5SD) | 42 (−3SD) |
| Onset | Perinatal | Perinatal | Perinatal | Prenatal | Perinatal | Perinatal | Perinatal | Perinatal |
| Progressive encephalopathy | No | No | Yes | Yes | No | Yes | Yes | Yes |
| Posture: bedridden (B), sitting (S), walking (W) | B | B | B | B | B | B | B | B |
| Development | ||||||||
| Gross motor (normal/delayed/absent) | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent |
| Fine motor (normal/delayed/absent) | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent |
| Language (normal/delayed/absent) | Absent | Absent | Absent | Absent | Absent | Absent | Absent | Absent |
| Social (normal/delayed/absent) | Absent | Absent | Absent | Absent | Delayed | Absent | Absent | Absent |
| Seizures | ||||||||
| Epileptic seizures | + | + | + | − | + | + | + | + |
| Onset | 7 years | 4 years | 5 years | − | 1 day | 2 months | 3 months | 5 months |
| Neurological Findings | ||||||||
| Axial hypotonia | + | + | + | + | + | + | + | + |
| Distal hypertonia | + | + | + | + | + | + | + | + |
| Pyramidal signs | Spastic tetraplegia | Spastic tetraplegia | Spastic tetraplegia | Spastic tetraplegia | Spastic tetraplegia | Spastic tetraplegia | Spastic tetraplegia | Spastic tetraplegia |
| Extra-pyramidal signs | + | + | + | + | − | + | + | + |
| Ophthalmological findings | ||||||||
| Nystagmus | + | + | + | + | + | bilateral + | + | + |
| Abnormal ocular movement | + | + | + | + | + | NA | + | + |
| Optic atrophy | + | + | + | − | − | − | + | − |
| VEP/ERG | NA | ERG | VEP | ERG/VEP | NA | abnormal VEP, left eye | abnormal VEP | − |
| Others | Ptosis/cataract | Ptosis/cataract | Blindness | Ptosis | Cataract | Ptosis, Cataract | couldn’t follow object | − |
| Investigations | ||||||||
| Metabolic | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal |
| EEG | Abnormal | Normal | Normal | Normal | Normal | Abnormal | Abnormal | Abnormal |
| MRI | ||||||||
| Age at last investigation (years (y); months (m); days (d)) | 2y7m | 8m2d | 1y11m | 8m23d | 4 m | 6y8m | 2.5 y | 1.5 y |
| Cerebellum | Hypoplasia | Hypoplasia | Hypoplasia | Hypoplasia | Hypoplasia | Hypoplasia | Hypoplasia | Hypoplasia |
| Pons | Atrophy | Atrophy | Atrophy | Atrophy | Hypoplasia | Atrophy | Atrophy | Atrophy |
| Cerebral cortex atrophy | Atrophy | Atrophy | Atrophy | Atrophy | − | Atrophy | atrophy | atrophy |
| Ventricles | Enlarged | Enlarged | Enlarged | Enlarged | Enlarged | Enlarged | enlarged | enlarged |
| Corpus callosum | − | − | Thin | NA | − | thin | Thin | Thin |
| Basal Ganglia hypoplasia/atrophy | + | + | + | + | thalamic atrophy | + | + | + |
| Basal ganglia T2 hypersignal | + | + | + | + | thalami | + | − | − |
| Spectroscopy | No lactate abnormality | NA | NA | NA | NA | No lactate abnormality | NA | NA |
| Others (WM defect) | WM periventricular atrophy | WM periventricular atrophy | NA | NA | NA | WM periventricular atrophy | − | − |
| Other symptoms | ||||||||
| Respiratory tract congestion | No | No | Yes | No | Yes | No | Yes | No |
| Apnoea | No | No | No | No | No | No | Yes | No |
| Impaired swallowing | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Joint stiffness | Yes | Yes | Yes | Yes | NA | Yes | Yes | No |
| Skeletal deformities | Scoliosis | Scoliosis | Scoliosis | Scoliosis | Scoliosis | Scoliosis | scoliosis | No |
| Cardiovascular findings | No | No | NA | NA | No | No | No | No |
| Urine screening | Normal | Normal | NA | Normal | Normal | recurrent urinary infection | Normal | Normal |
| Peripheral blood smear | NA | NA | NA | Thrombocytosis | Normal | NA | NA | NA |
| Muscle wasting | Yes | Yes | Yes | Yes | Yes | Yes | Yes | No |
| Facial dysmorphism | Yes | Yes | No | No | Yes | Micrognathia | Non-specific small head, prominent nose, low set ear | Non-specific small head, prominent nose, low set ears |
| Other | NA | NA | Mild Normochromic, normocytic anaemia | Abnormal fat distribution | NA | BAEP: no response | − | − |
EEG electroencephalogram, ERG electroretinography, HC head circumference, M median, NA not available, VEP visual evoked potential.