Familial Brain Calcinosis Syndrome

Familial Brain Calcinosis Syndrome

<p> Wszolek et al -1- tjh (RJF)</p><p>Table (E)T-2. Kindreds Who Had Brain Calcinosis on CT Studies of the Head and No Calcium, Phosphorus, or Parathyroid Hormone Metabolism Dysfunction*</p><p>No. of family Mean age at members/generations/ symptom Calcium deposits symptomatic onset, Symptomatic Asymptomatic Reference, year individuals Inheritance decade Clinical features† individuals individuals</p><p>Aiello et al (12), 1981 8/ 3/ 3 AD 2 ID, AT, PS BT, T, C, SW, midbrain CT studies not done Smits et al (8), 1983 23/ 3/ 1 AR 3 ID, CH, AT, DA BG, C, SW, CC, P BG, C, SW, CC, P Harati et al (19), 1984 8/ 3/ 4 AD 3 ID, PA, AT, DA, HR, UI BG, PWM CT studies not done Francis and Freeman (26), 1984 24/ 4/ 13 AD 3 ID, PS BG, T, C, SW, CC CT studies not done Ellie et al (24), 1989 6/ 3/ 1 AD 4 ID, AT, HR, SE BG, C, SW BG Manyam et al (13), 1992 37/ 4/ /4 AD 4 ID, PA, AT, UI, SE BG, C, SW BG, C Naderi et al (27), 1993 28/ 4/ 3 X-linked 4 ID, PA, AT, PS, SP, UI BG, T, C, SW, P BG, C, P Callender (20), 1995 5/ 4/ 3 AD? 2 ID, CH, PS, SE BG, SW CT studies not done Kobari et al (21), 1997 18/ 4/ 1 AD 3 ID, PA, AT BG, T, C, SW, cc, H BG Chabot et al (22), 2001 10/ 2/ 3 AD 3 PS BG, C BG Wszolek et al -2- tjh (RJF)</p><p>Table (E)T-2 (continued)</p><p>No. of family Mean age at members/generations/ symptom Calcium deposits symptomatic onset, Symptomatic Asymptomatic Reference, year individuals Inheritance decade Clinical features† individuals individuals</p><p>Manyam et al (25), 2001‡ 123/ 5/ 4 AD 4 ID, PA, PS BG, T, C, SW BG, T, C, SW Lhatoo et al (23), 2003 19/ 3/ 3 AD 3 ID, PA, DY, AT, PS, DA BG, T, C, SW BG, T Present study (2005) 164/ 6/ 11 AD 2 ID, DY, CH, AT BG, T, C, SW BG, T, C, SW</p><p>AD, autosomal dominant; AR, autosomal recessive; AT, ataxia; BG, basal ganglia; C, cerebellum; CC, corpus callosum; cc, cerebral cortex; CH, chorea; DA, dysarthria; DY, dystonia; H, hippocampus; HR, hyperreflexia; ID, intellectual decline; P, pons; PA, parkinsonism; PS, psychiatric symptom; PWM, periventricular white matter; SE, seizure; SP, spasticity; SW, subcortical white matter; T, thalamus; UI, urinary incontinence. *Two families (7,8) were not included in this table because detailed CT data pertinent to calcium deposition were not provided. †Boldface type indicates a leading symptom. ‡Sporadic cases not included.</p>

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