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Table 1 Synopsis of MRX87 male patients

From: MRX87 family with Aristaless Xdup24bp mutation and implication for polyAlanine expansions

Individual Age Mental handicap Minor anomalies Behavior MRI/CT scan OCF
II:5 67 y Severe Pyramidal Hypotonia;
Bilateral Babinski sign;
Deficit of the VII cranial nerve;
Urinary incontinence;
Neurosensorial hypoacusis
Demential syndrome Normal 52 cm
III:10 40 y Severe Flatfoot Nd Cerebellar tonsils below the level of the foramen magnum;
Wide subarachnoid spaces
56 cm
IV:13 22 y Moderate Flatfoot;
Urinary incontinence
Nd Normal 53 cm
IV:14 16 y Moderate Sialorrhoea;
Language deficit Normal 54 cm
  1. OCF = Occipital Circumference; Head and neck MRA – Sag T1, axial FLAIR, axial FSE T2. Nd = not determined.