Table 1 Clinical features of family members
Individual | |||||||
|---|---|---|---|---|---|---|---|
III:1a | III:2 | IV:1 | IV:2 | IV:3 | IV:4 | IV:5 | |
GRID2 genotype | NI | C/T | C/T | T/T | T/T | T/T | C/C |
Gender | M | F | M | M | M | F | F |
Age (years) at exam | † at 70 | 75 | 53 | 47 | 45 | 40 | 35 |
Age at onset (ataxia) | – | – | – | Congenital | Congenital | Congenital | – |
Cognitive impairment | – | – | – | Moderate intellectual disability | Moderate intellectual disability | Moderate intellectual disability | – |
Atactic gait | – | – | – | + | + | + | – |
Dysmetria | – | – | – | + | + | + | – |
Dysdiadochokinesis | NI | – | – | + | + | + | – |
Dysarthria | – | – | – | + | + | + | – |
Peripheral muscle tone | Normal | Normal | Normal | Increased | Increased | Increased | – |
Nystagmus upgaze/ saccadic pursuit | NI | – | – | – | – | – | – |
Ambulation | Normal | Normal | Normal | Walk independently from age 7-8 years | Walk independently from age 7-8 years | Walk independently from age 7-8 years | Normal |
MRI findings | NI | NI | NI | General atrophy | NI | NI | NI |
Babinski sign | NI | – | – | – | – | – | – |
Delayed motor development | – | – | – | + | + | + | – |
Body length (cm) | NI | 149 | 171 | 172 | 162 | 152 | 150 |
Head circumference (cm) | NI | 55 | 55.5 | 56 | 55.5 | 53 | 53.5 |