Table 1. Clinical Findings and GLIALCAM Mutations

Table 1. Clinical Findings and GLIALCAM Mutations

Patient / 1a / 1b / 2
General
Gender / F / F / F
Family
Consanguineous parents / no / no / no
Healthy/ affected sibs / affected sib / affected sibling / no
Head circumference father / 56 / na
Head circumference mother / 55 / na
History
Age at onset / 4 mo / 6 mo / 18 mo
Presenting Sign / macrocephaly / macrocephaly / macrocephaly
Early Motor Development / regular / regular / regular
Unsupported walking, age / 21 mo / 18 mo / 18 mo
Language Development / regular / regular / regular
Wheel chair / no / no / no
Epilepsy (1st seizure) / no / no / no
Recent Examination
Age / 7y / 5 y / 14 y6m
Estimated IQ / GQ 71 (3 y) / GQ 74 (4 y) / IQ 95 (9 y)
Head circumference (cm) / 53; 98° centile / 52; 98° centile / 58 cm;98° centile
Dysarthria / no / no / no
Dysphagia / no / no / no
Neurological Evaluation
Muscle Tone
Upper limbs
Lower limbs / normal
normal / normal
normal / normal
increased
Tendon Reflexes
upper limbs
lower limbs / normal
normal / normal
normal / normal
increased
Spasticity / no / no / yes (mild;
lower limbs)
Babinski Sign / no / no / yes
Motor Function (clumsiness) / no / no / yes (mild)
Extrapyramidal Signs / no / no / focal dystonia
Cerebellar Signs
finger-to-nose
ankle-to-knee / no
yes (mild) / no
yes (mild) / yes (mild)
yes (mild)
Sensory Disturbances / no / no / no
Neuroradiology
Head-MRI / abnormal / abnormal / abnormal
Molecular Genetics
Mutations / c.167A>C heterozygous / c.167A>C heterozygous / c.166C>T/c.217C>T

Legends. na: not available; GQ: Griffith developmental scale; y: years; IQ: intelligence quotient; mo: months