View all contents - Parkinson's disease Mutation Database

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The variants below are all in the SNCA database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than SNCA, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the SNCA full legend here.

19 public entries
entries per page

Path.

Exon

DNA change

RNA change

Protein

Frequency

Location

Disease

Reference

Template

Technique

Remarks

# Reported

Ethnic origin

Geographic origin

Gender

Age at onset

Family history

Symptom Bradykinesia

Symptom Resting Tremor

Symptom Rigidity

Symptom Postural Instability

Symptom Asymmetric onset

L-Dopa responsive

Symptom Dystonia

Symptom REM sleep disorder

Psychiatric abnormalities

Symptom Dementia

Symptom Loss of smell/taste

Symptom Autonomic dysfunction

Atypical clinical features

Pathology


+/+	1-6	genomic duplication	-	-	-	whole gene	LOPD	Chartier-Harlin et al 2004	DNA	gene dosage	1/9 families	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic duplication	-	-	-	whole gene	LOPD	Ibanez et al 2004	DNA	gene dosage	2/119 PD cases	2	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic duplication	-	-	-	whole gene	LOPD	Nishioka et al 2006 Obi et al 2008	DNA	Gene dosage	confirmed with FISH 2/113 familial AD-PD	2	-	Japan	-	patient (B-1) 47yrs	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic duplication	-	-	-	whole gene	LOPD	Ikeuchi et al 2008	DNA	gene dosage	1 hom, 3het	1	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic duplication	-	-	-	whole gene	EOPD	Ahn et al, Norway:Trondheim	DNA	Gene dosage	1 familial, 2 sporadic cases of 906 PD patients, each patient had asymptomatic carriers in their families. The familial case had early onset parkinsonism with rapidly progressive course, cognitive impairment, and dysautonomia. Sporadic cases were more typical of PD.	3	-	Korea	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic duplication + genomic duplication	-	-	-	whole gene	PD	Ikeuchi et al. 2008	DNA	Gene dosage	Four-generation family, 3 patients were heterozygous for SNCA duplication and 1 patient was homozygous for SNCA duplication. The homozygous patient showed earlier age at onset and earlier death, with more severe cognitive impairment than the heterozygous patients.	1	Japanese	Japan	-	28 (homo), 39-71 (het)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic duplication	-	-	-	whole gene	PD	Brueggemann et al 2008	DNA	Gene dosage	1/403; 0.25%, negative family history early onset idiopathic PD, frontal release signs and bilateral horizontal gaze-evoked nystagmus, L-Dopa responsive	1	-	Germany	Female	38yr?	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic duplication	-	-	-	whole gene	PD	Troiano et al 2008	DNA	MLPA	1/101 early onset sporadic PD	1	-	European (84%), North African (4%)	Female	35	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic duplication	-	-	-	whole gene	PDD, DLB	Uchiyama et al 2008	DNA	Gene dosage	family (mother, son affected), psychiatric symptoms including attention impairment and visual hallucinations	1	Japanese	-	-	47 (male), 73 (female)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic duplication	-	-	-	whole gene	ADPD	Ibáñez et al 2009	DNA	Gene dosage	4/264 (1.5%) typical ADPD, 2 patients published earlier in Ibanez et al 2004 and Chartier-Harlin et al 2004	2	-	Mainly European	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic duplication	-	-	-	whole gene	PD	Nishioka et al 2009	DNA	Gene dosage	4 new families, 1 sporadic patient out of 103 consecutive patients with autosomal dominant PD, overall penetrance 43.8%, Family A and B previously reported	5	-	Japanese	-	31-62	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic duplication	-	-	-	whole gene	familial PD	Sironi et al 2009	DNA	Gene dosage	1/144, patient showed rapidly progressive disease with early motor complications	1	-	Italy	Female	41 yrs	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic triplication	-	-	-	whole gene	EOPD with dementia	Singleton et al 2003	DNA	gene dosage	Iowa kindred	1	Caucasian	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic triplication	-	-	-	whole gene	EOPD with dementia	Farrer et al 2004	DNA	gene dosage	linked to a family described by Mjones (1949); different branch of family found with duplication of the SNCA gene	1	-	Sweden	Male	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	1-6	genomic triplication	-	-	-	whole gene	AD parkinsonism	Ibáñez et al 2009	DNA	Gene dosage	1/22 (4.5%) atypical AD parkinsonism- triplication	1	-	Mostly European	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	02	c.88G>C	-	A30P	2 affected, 1 carrier	Exon	LOPD with cogn impairment	Kruger et al 1988	DNA	SEQ	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	03	c.136G>A	-	E46K	5 affected, 3 carrier	Exon	DLB	Zarranz et al 2004	DNA	SEQ	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	03	c.157G>A	-	A53T	2 cases	Exon	PD	Markopoulou et al. 2008	DNA	SEQ	combined with Parkin polymorphism S167N	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/+	03	c.157G>A	-	A53T	2 cases	Exon	EOPD	Polymeropoulos et al 1997	DNA	SEQ	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-

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Legend: [ SNCA full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Frequency: Frequency if variant is non pathogenic. Location: Variant location at DNA level. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Ethnic origin: Ethnic origin Geographic origin: Geographic origin of patient Gender: Patient gender Age at onset: onset of PD symptoms Family history: Family history, how many generations?, number of affected individuals Symptom Bradykinesia: Gelb criteria Bradykinesia Symptom Resting Tremor: Gelb criteria Resting Tremor Symptom Rigidity: Gelb criteria Rigidity Symptom Postural Instability: Gelb criteria Postural Instability Symptom Asymmetric onset: Gelb criteria Asymmetric onset L-Dopa responsive: Gelb criteria L-Dopa responsive Symptom Dystonia: Symptom Dystonia present/absent Symptom REM sleep disorder: Symptom REM sleep disorder Psychiatric abnormalities: Psychiatric abnormalities: depression, anxiety, hallucinations etc. Symptom Dementia: Symptom Dementia/ cognitive decline Symptom Loss of smell/taste: Symptom Loss of smell/taste Symptom Autonomic dysfunction: Symptom Autonomic dysfunction: hypotonia, urinary incontinence, constipation Atypical clinical features: Atypical clinical features Pathology: Pathology: Lewy bodies

Parkinson's disease Mutation Database

Alpha-synuclein (SNCA)