Page 44 - Demo

Chapter 242NeuropathologyNeuropathological findings were reported for 16 patients (11 male; 73.3%) at median age 57 (range 2-74) years: 22q11.2 deletion syndrome (n=3), Down syndrome (n=2), POLG (n=2), BPAN (n=1), CTX (n=1), Cornelia de Lange syndrome (n=1), DNAJC12 (n=1), DOORS syndrome (n=1), 5,10-methylenetetrahydrofolate reductase deficiency (n=1), NR4A2 (n=1), PPP2R5D (n=1) and RAB39B (n=1) (Table 2). In 14 patients, the presence of Lewy bodies was examined, with positive findings in six cases (42.9%): 22q11.2 deletion syndrome (n=2/3), Down syndrome (n=2/2), NR4A2 (n=1/1) and RAB39B (n=1/1). Neurites were examined in nine patients and present in seven: 22q11.2 deletion syndrome (n=2/3), Cornelia de Lange syndrome (n=1/1), DNAJC12 (n=1/1), Down syndrome (n=1/1), NR4A2 (n=1/1) andRAB39B (n=1/1). Neuronal loss was reported in all but one patient (92.9%), the latter who had DOORS syndrome.Table 2. Neuropathological findings in patients with genetic neurodevelopmental disorders andparkinsonismGenetic neurodevelopmental disorder Age, y Sex LB LN Neuronal loss22q11.2 deletion syndrome 82 5658 61FMM++-++-+++BPAN 83 27 F - NR +CTX 69 56 M NR NR +Cornelia de Lange syndrome 84 38 M - + * +DNAJC12 85 74 M - + * +DOORS syndrome 37 72 M - NR -Down syndrome 86, 87 5449MM+++ *NR++MTHFR deficiency 88 2 F NR NR +NR4A2 89 74 NR + + +POLG 90 6160FM----++PPP2R5D 91 61 M - - +RAB39B 92 48 M + + +Abbreviations: y = years, LB = Lewy bodies, LN = Lewy neurites, F = female, M = male, + = present, - = absent, BPAN = Beta-propeller protein associated neurodegeneration, NR = not reported, + * = neurites (unspecified), CTX = cerebrotendinous xanthomatosis, MTHFR = 5,10-methylenetetrahydrofolatereductase.