LOVD - Variant listings for SNCA

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Exon Hide Exon column Descending
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RNA change Hide RNA change column Descending
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Technique Hide Technique column Descending
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# Reported Hide # Reported column Descending
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Ethnic origin Hide Ethnic origin column Descending
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Geographic origin Hide Geographic origin column Descending
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Gender Hide Gender column Descending
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Age at onset Hide Age at onset column Descending
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Family history Hide Family history column Descending
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Symptom Bradykinesia Hide Symptom Bradykinesia column Descending
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Symptom Resting Tremor Hide Symptom Resting Tremor column Descending
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Symptom Rigidity Hide Symptom Rigidity column Descending
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Symptom Postural Instability Hide Symptom Postural Instability column Descending
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Symptom Asymmetric onset Hide Symptom Asymmetric onset column Descending
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L-Dopa responsive Hide L-Dopa responsive column Descending
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Symptom Dystonia Hide Symptom Dystonia column Descending
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Symptom REM sleep disorder Hide Symptom REM sleep disorder column Descending
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Psychiatric abnormalities Hide Psychiatric abnormalities column Descending
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Symptom Dementia Hide Symptom Dementia column Descending
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Symptom Loss of smell/taste Hide Symptom Loss of smell/taste column Descending
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Symptom Autonomic dysfunction Hide Symptom Autonomic dysfunction column Descending
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+/+ 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