IllnessParkinson syndrome + disease, differential diagnosis

NGS + X

[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
• Alias: Parkinson's disease
• Alias: Primary parkinsonism
• Allelic: 3-methylglutaconic aciduria, type VIII (HTRA2)
• Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCTN1)
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
• Allelic: Aphasia, primary progressive (GRN)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
• Allelic: Combined SAP deficiency (PSAP)
• Allelic: Dementia, Lewy body (SNCA)
• Allelic: Developmental + epileptic encephalopathy 53 (SYNJ1)
• Allelic: Gaucher disease, atypical (PSAP)
• Allelic: Gaucher disease, perinatal lethal (GBA1)
• Allelic: Gaucher disease, type I, II, III, IIIC (GBA1)
• Allelic: Hyperostosis cranalis interna (SLC39A14)
• Allelic: Hyperphenylalaninemia, BH4-deficient, B (GCH1)
• Allelic: Infantile neuroaxonal dystrophy 1 (PLA2G6)
• Allelic: Intellectual developmental disorder, XL 72 (RAB39B)
• Allelic: Intellectual developmental disorder, XL syndromic 33 (TAF1)
• Allelic: Krabbe disease, atypical (PSAP)
• Allelic: Lewy body dementia, susceptibility to (GBA1)
• Allelic: Lopes-Maciel-Rodan syndrome (HTT)
• Allelic: Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
• Allelic: Neuronopathy, distal hereditary motor, type VIIBV
• Allelic: Nicotine dependence, protection against (SLC6A3)
• Allelic: Optic atrophy 3 with cataract (OPA3)
• 3-methylglutaconic aciduria, type III (OPA3)
• Amyotrophic lateral sclerosis 5, juvenile (SPG11)
• Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
• CAPOS s. Cerebellar Ataxia, areflexia, Pes cavus, Optic atrophy, Sensorineural hearing loss (ATP1A3)
• Ceroid lipofuscinosis, neuronal, 11 (GRN)
• Chediak-Higashi syndrome (LYST)
• Congenital hypotonia, epilepsy, developmental delay, + digital anomalies (ATN1)
• Dementia, frontotemporal, with or without parkinsonism (MAPT)
• Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
• Dystonia 16 (PRKRA)
• Dystonia 4, torsion, AD (TUBB4A)
• Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
• Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
• Dystonia-12 (ATP1A3)
• Dystonia-12 (C19orf12)
• Dystonia-Parkinsonism, X (TAF1)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72_GGGGCC)
• Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
• HARP syndrome, Hypoprebetalipoproteinemia, Acanthocytosis, Ret. pigm., Pallidal degeneration (PANK2)
• Huntington disease (HTT_CAG)
• Huntington disease-like 2 (JPH3_CAG)
• Hyperferritinemia-cataract syndrome (FTL)
• Hypermanganesemia with dystonia 1 (SLC30A10)
• Hypermanganesemia with dystonia 2 (SLC39A14)
• Kufor-Rakeb syndrome (ATP13A2)
• L-ferritin deficiency, AD, AR (FTL)
• Leukodystrophy, hypomyelinating, 6 (TUBB4A)
• Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
• Leukoencephalopathy, diffuse hereditary, with spheroids 1 (CSF1R)
• Levodopa-responsive Parkinson disease +/- atypical features [GeneReviews] (PODXL)
• Machado-Joseph disease (ATXN3_CAG)
• Neurodegeneration with brain iron accumulation 1 (PANK2)
• Neurodegeneration with brain iron accumulation 2B (PLA2G6)
• Neurodegeneration with brain iron accumulation 3 (FTL)
• Neurodegeneration with brain iron accumulation 4 (C19orf12)
• Neurodegeneration with brain iron accumulation 5 (WDR45)
• Neurodegeneration with brain iron accumulation 6 (COASY)
• 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 23, AR, early onset (VPS13C)
• 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 9, Kufor-Rakeb, Pallidopyramid. deg. + supranucl. upgaze paresis, dement (ATP13A2)
• Parkinson disease, late-onset, susceptibility to (ATXN2:CAG)
• Parkinson disease, late-onset, susceptibility to (GBA1)
• Parkinson disease, susceptibility to (MAPT)
• Parkinson disease, susceptibility to (TBP_CAG)
• Parkinsonism, intellectual disability (PTRHD1)
• Parkinsonism-dystonia, infantile, 1 (SLC6A3)
• Perry syndrome, Parkinsonism, alveolar hypoventil., mental depression (DCTN1)
• Pick disease (MAPT)
• Pontocerebellar hypoplasia, type 12 (COASY)
• Segawa syndrome, AR (TH)
• Spastic paraplegia 11, AR (SPG11)
• Spastic paraplegia 43, AR (C19orf12)
• Spastic paraplegia 79A, AD (UCHL1)
• Spastic paraplegia 79B, AR (UCHL1)
• Spinocerebellar ataxia 1 (ATXN1_CAG)
• Spinocerebellar ataxia 12 (PPP2R2B)
• Spinocerebellar ataxia 17 (TBP_CAG)
• Spinocerebellar ataxia 2 (ATXN2_CAG)
• Supranuclear palsy, progressive (MAPT)
• Supranuclear palsy, progressive atypical (MAPT)
• Waisman syndrome, Parkinsonism, early onset, mental retardation (RAB39B)