IllnessParkinson syndrome, early adult [<50 y.]; differential diagnosis

NGS +

Parkinson syndrome (PS) is a progressive disease of the nervous system. The disorder affects several regions of the brain, in particular the substantia nigra. The first symptom of PS is often a tremor, which usually begins in one hand. Other characteristic symptoms are stiffness of the limbs and trunk, bradykinesia/akinesia and postural instability. These symptoms gradually worsen over time. PS can also affect the emotions and the cognition. Some sufferers develop even psychiatric disorders such as depression and visual hallucinations. PS patients also have an increased risk of developing dementia. In early-onset PS, symptoms begin before the age of 50, and in juvenile PS even before the age of 20. Most cases of PS are the result of a complex interplay of environmental and genetic factors. About 15% are familial PS cases with mutations mainly in 6 guideline-curated genes (LRRK2, PARK7, PINK1, PRKN, SNCA, VPS35). These monogenic forms of Parkinson's are either inherited autosomal dominantly or autosomal recessively. The DNA diagnostic yield is still limited, and negative molecular genetic test results do not rule out the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1223/

• Alias: Morbus Parkinson; Parkinson disease; []primary] Parkinsonism
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2_CAG)
• Allelic: Combined SAP deficiency (PSAP)
• Allelic: Gaucher disease, atypical (PSAP)
• Allelic: Hyperostosis cranialis interna (SLC39A14)
• Allelic: Hyperphenylalaninemia, BH4-deficient, B (GCH1)
• Allelic: Krabbe disease, atypical (PSAP)
• Allelic: Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
• Allelic: Optic atrophy 3 with cataract (OPA3)
• Allelic: Spinocerebellar ataxia 17 (TBP_CAG)
• Allelic: Spinocerebellar ataxia 2 (ATXN2_CAG)
• Allelic: Spinocerebellar ataxia 8 (ATXN8OS_CTG)
• 3-methylglutaconic aciduria, type III (OPA3)
• Aphasia, primary progressive (GRN)
• Chediak-Higashi syndrome (LYST)
• Choreoacanthocytosis (VPS13A)
• Dystonia 12; rapid-onset dystonia-parkinsonism (ATP1A3)
• Dystonia 16 (PRKRA)
• Dystonia 4, torsion, AD /TUBB4A)
• Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
• Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
• Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
• HARP [Hyperprebetalipoproteinemia, Acanthocytosis, Rp, Pallidal degener.] syndrome (PANK2)
• Hyperferritinemia-cataract syndrome (FTL)
• Hypermanganesemia with dystonia 1 (SLC30A10)
• Hypermanganesemia with dystonia 2 (SLC39A14)
• Kufor-Rakeb syndrome; Parkinson disease 9 (ATP13A2)
• L-ferritin deficiency, AD, AR (FTL)
• Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
• Machado-Joseph disease (ATXN3_CAG)
• Neurodegeneration with brain iron accumulation 1 (PANK2)
• Neurodegeneration with brain iron accumulation 3 (FTL)
• Neurodegeneration with brain iron accumulation 5 (WDR45)
• Parkinson disease 1 (SNCA)
• Parkinson disease 11 (GIGYF2)
• Parkinson disease 13 (HTRA2)
• Parkinson disease 14, AR (PLA2G6)
• Parkinson disease 15, AR (FBXO7)
• Parkinson disease 17 (VPS35)
• Parkinson disease 18 (EIF4G1)
• Parkinson disease 19a, juvenile-onset (DNAJC6)
• Parkinson disease 19b, early-onset (DNAJC6)
• Parkinson disease 2, juvenile (PRKN)
• Parkinson disease 20, early-onset (SYNJ1)
• Parkinson disease 22, AD (CHCHD2)
• Parkinson disease 24, AD, susceptibility to (PSAP)
• Parkinson disease 4 (SNCA)
• Parkinson disease 5, susceptibility to (UCHL1)
• Parkinson disease 6, early onset (PINK1)
• Parkinson disease 7, AR early-onset (PARK7)
• Parkinson disease 8 (LRRK2)
• Parkinson disease susceptibility to [only in OMIM text] (ATXN3_CAG)
• Parkinson disease, age of onset, modifier (GLUD2)
• Parkinson disease, late-onset, susceptibility to (ATXN2_CAG)
• Parkinson disease, late-onset, susceptibility to (GBA)
• Parkinson disease, susceptibility to (ADH1C, MAPT, TBP)
• Parkinson disease, susceptibility to (ATXN8OS_CTG)
• Spastic paraplegia 11, AR (SPG11)
• Waisman syndrome (RAB39B)