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Table 1 Clinical features of family members

From: Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

  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
  1. + = present; − = absent;; NI = not investigated, F = female, M = male, † = deceased
  2. aInd. III:1 died at age 70 years and his clinical data are based on anamnestic information from III:2