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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;

Flatfoot

Language deficit

Normal

54 cm

  1. OCF = Occipital Circumference; Head and neck MRA – Sag T1, axial FLAIR, axial FSE T2. Nd = not determined.