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Chapter 264Figure S2. Patient characteristics and parkinsonian features per genetic disorder0-24$-49P-74u-100%Genetic conditionNumber of casesMale *Intellectual disability *Mean age at motor onsetBradykinesia, hypokinesia or akinesia *Rigidity *Rest tremor *Postural instability *Asymmetric motor symptoms *Progression of motor signs *Reduced DAT binding with dopaminergic Good response antiparkinsonian medication Levodopa-induced dyskinesia *Cognitive decline/ Psychiatric symptomsProposed main cause of parkinsonism: Parkinson’s disease Genetic Drug-inducedCo-existing neurologic disorder: Epilepsy/seizures Dystonia Ataxia OtherMonogenicBeta-propeller protein-associated neurodegeneration (WDR45)43 6/4341/4125 40/41 43/43 8/3412/17 6/6 33/33 4/4 25/327/136 2 36/420 35 1 40/43 21 34 1 3Cerebrotendinous xanthomatosis (CYP27A)22 8/2214/16 34 20/20 18/20 12/18 10/11 12/13 11/12 8/1011/162/4 5 5 13/220 13 0 14/22 1 1 10 6Rett syndrome (MECP2) 21 6/216/8 12 21/21 16/16 6/211/2 1/3 4/4 0/1 0/3 0/3 3 2 1/21 0 1 0 8/210 8 0 0POLG 20 10/20 1/2051 19/19 13/15 13/15 2/2 11/13 6/6 8/8 4/5 - 1 3 14/200 14 0 9/200 1 8 0SYNJ1 20 10/20 0/1826 20/20 17/19 16/20 13/13 19/19 20/20 3/3 9/17 9/168 0 20/206 14 0 15/20 7 11 0 3DNAJC6 a 19 8/168/1916 19/19 19/19 15/19 19/19 9/11 19/19 5/5 11/176/8 2 5 19/195 14 0 11/19 7 2 0 3Tyrosine hydroxylase deficiency (TH) 16 5/105/9 4 11/11 12/13 10/14 1/1 0/1 11/13 - 16/166/140 1 12/160 12 0 13/16 0 10 3 1Dravet syndrome (SCN1A) 13 5/1213/13 27 13/13 12/12 2/136/139/112/2 0/2 2/13 0/2 1 0 - - - - 13/13 13 8 0 0Neurofibromatosis type I, Von Recklinghausen (NF1) b11 5/111/2 56 2/2 2/2 2/3 1/2 2/2 2/2 1/1 1/2 2/2 0 9 9/119 0 0 1/111 0 0 -Phosphoglycerate kinase deficiency (PGK1) 10 10/10 8/1022 10/10 9/109/106/7 8/8 10/10 5/5 3/10 3/5 0 3 4/100 4 0 7/104 3 0 6SPG11 10 1/4 5/1015 4/4 3/4 4/4 3/3 2/4 5/5 3/3 5/8 1/4 1 0 7/100 7 0 2/10 0 1 0 1Neuronal ceroid lipofuscinosis, juvenile (CLN3)8 8/8 0/8 <198/8 8/8 0/8 8/8 0/8 8/8 8/8 - - 0 0 - - - - 8/8 8 0 0 0PTRHD1 c 7 4/7 6/7 24 6/6 3/7 4/6 6/6 5/5 7/7 1/1 6/6 2/6 1 3 7/7 0 7 0 5/7 1 1 0 3RAB39B 7 7/7 7/7 38 7/7 5/5 6/6 1/1 3/3 6/6 3/7 6/7 3/6 1 4 7/7 1 6 0 5/7 0 1 0 4X-linked parkinsonism with spasticity (ATP6AP2)7 7/7 2/7 18 7/7 1/2 4/7 2/2 1/1 - - - - 0 0 7/7 0 7 0 5/7 2 0 0 4Alexander disease (GFAP) 5 2/5 1/5 55 5/5 5/5 1/2 0/1 2/2 1/1 1/2 1/1 - 2 0 3/5 0 2 1 4/5 0 0 3 1Dopa-responsive dystoniaParkinsonism (NR4A2) 5 3/4 3/5 41 5/5 5/5 4/5 2/2 5/5 5/5 3/3 4/4 1/2 1 1 5/5 2 3 0 3/5 1 3 0 0Fragile X syndrome (FMR1) d5 5/5 1/1 58 5/5 1/1 0/1 1/1 - 1/1 - - - 5 5 5/5 4 1 0 1/5 0 1 0 -SPG15 (ZFYVE26) 5 4/5 3/4 11 5/5 4/5 2/5 - 5/5 5/5 4/4 3/4 1/2 2 0 3/5 0 3 0 2/5 0 0 0 2Christianson syndrome – NHE6 (SLC9A6) e 4 2/4 0/3 44 4/4 3/3 1/2 3/4 3/3 2/2 1/1 1/1 - 2 0 4/4 0 4 0 2/4 0 1 0 1Dihydropteridine reductase deficiency (QDPR)4 3/3 2/2 13 2/2 3/3 3/4 - - 4/4 0/2 3/3 2/4 0 3 2/2 0 2 0 1/4 1 0 0 1DNAJC12 4 2/4 4/4 27 2/2 1/1 1/4 - - 1/4 1/3 4/4 3/3 0 2 4/4 0 4 0 1/4 0 1 0 0