IllnessParkinson syndrome, susceptibility

NGS + X SNP

[Sanger]

Parkinson syndrome is a generic term with different etiologies (idiopathic, non-idiopathic Parkinson syndrome). Parkinson syndromes are defined by akinesia and one of the variably expressed cardinal symptoms rigor, resting tremor, postural instability. Optional accompanying symptoms are sensory symptoms (dysesthesias, pain, hyposmia), autonomic symptoms (disturbances of blood pressure and/or temperature regulation, bladder/bowel function and sexual function), psychological symptoms (depression), sleep disturbances, cognitive symptoms (frontal disturbances, dementia). The vast majority of patients with Parkinson syndrome with the typical motor signs suffer from idiopathic Parkinson disease (with Lewy- body pathology), which is slowly progressive. Parkinson diseases that occur before the age of 40 are called "early onset", those that begin before the age of 21 are called "juvenile". The multitude of genetic (co-)causes of Parkinson syndrome is taken into account with an extensive panel, all known modes of inheritance are represented. However, monogenic Parkinson disease accounts for only 5-10% of the total Parkinson spectrum. The DNA diagnostic yield is also low in the juvenile Parkinson subgroup with up to 15% of detected pathogenic sequence alterations. Inconspicuous genetic findings do not imply a definite exclusion of the suspected neurological diagnosis.

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

• Alias: Morbus Parkinson; Parkinson disease; 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)