TABLE 2.

Neuropathological findings in patients with genetic neurodevelopmental disorders and parkinsonism

Genetic neurodevelopmental disorder	Age, y	Sex	LB	LN	Neuronal loss
22q11.2 deletion syndrome 17	56	F	+	+	+
	58	M	+	+	+
	61	M	−	−	+
BPAN 115	27	F	−	NR	+
CTX 102	56	M	NR	NR	+
Cornelia de Lange syndrome 116	38	M	−	+ *	+
DNAJC12 47	74	M	−	+ *	+
DOORS syndrome 70	72	M	−	NR	−
Down syndrome 117 , 118	54	M	+	+ *	+
	49	M	+	NR	+
MTHFR deficiency 119	2	F	NR	NR	+
NR4A2 120	74	NR	+	+	+
POLG 45	61	F	−	−	+
	60	M	−	−	+
PPP2R5D 121	61	M	−	−	+
RAB39B 122	48	M	+	+	+

Abbreviations: −, absent; + *, neurites (unspecified); +, present; BPAN, beta‐propeller protein associated neurodegeneration; CTX, cerebrotendinous xanthomatosis; F, female; LB, Lewy bodies; LN, Lewy neurites; M, male; MTHFR, 5,10‐methylenetetrahydrofolate reductase; NR, not reported; y, years.