Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes

Barsottini, Orlando Graziani Póvoas; Felı́cio, André Carvalho; Aguiar, Patrícia Maria de Carvalho; Godeiro-Júnior, Clécio; Shih, Ming Chi; Hoexter, Marcelo Q.; Bressan, Rodrigo A.; Ferraz, Henrique B.; Andrade, Luiz Augusto Franco de

doi:10.1590/s0004-282x2009000100003

Cited by 13 publications

(10 citation statements)

References 18 publications

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“…Ethical approvals were obtained at each centre and written informed consent taken as required. The PINK1 [9], heterozygous GB A mutation associated PD [12], Brazilian Parkin and LRRK2 patients [13], SNCA cases [14] and Italian Parkin cases [15] have been reported previously.…”

Section: Resultsmentioning

confidence: 99%

Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis

McNeill

Tzen

et al. 2013

PLoS ONE

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ObjectivesTo compare the dopaminergic neuronal imaging features of different subtypes of genetic Parkinson's Disease.MethodsA retrospective study of genetic Parkinson's diseases cases in which DaTSCAN (123I-FP-CIT) had been performed. Specific non-displaceable binding was calculated for bilateral caudate and putamen for each case. The right:left asymmetry index and striatal asymmetry index was calculated.ResultsScans were available from 37 cases of monogenetic Parkinson's disease (7 glucocerebrosidase (GBA) mutations, 8 alpha-synuclein, 3 LRRK2, 7 PINK1, 12 Parkin). The asymmetry of radioligand uptake for Parkinson's disease with GBA or LRRK2 mutations was greater than that for Parkinson's disease with alpha synuclein, PINK1 or Parkin mutations.ConclusionsThe asymmetry of radioligand uptake in Parkinsons disease associated with GBA or LRRK2 mutations suggests that interactions with additional genetic or environmental factors may be associated with dopaminergic neuronal loss.

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Section: Resultsmentioning

confidence: 99%

Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis

McNeill

Tzen

et al. 2013

PLoS ONE

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“…[3, 6, 7] Limb dystonia, choreic limb dyskinesia, early wearing-off phenomenon, and levodopa response are also described in these cases. [8, 9]…”

Section: Introductionmentioning

confidence: 99%

A Peruvian family with a novel PARK2 mutation: Clinical and pathological characteristics

Cornejo‐Olivas¹,

Torres²,

Mata

et al. 2015

Parkinsonism & Related Disorders

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Background Mutations in PARK2 result in autosomal recessive young onset Parkinson’s disease (YOPD). Although there have been a number of reports on the clinical characteristics of PARK2-related PD, there is limited information available on the associated neuropathologic changes. Design We describe the clinical and pathological characteristics of a Peruvian family with YOPD. The proband and one unaffected sibling were screened for PARK2 dosage and point mutations. One affected sibling had detailed neuropathologic examination. Setting Instituto Nacional de Ciencias Neurologicas (INCN) in Lima, Peru Results The proband and two of her four siblings developed YOPD and both parents were unaffected. The clinical course has been characterized by akinetic-rigid parkinsonism predominantly affecting the lower limbs and dyskinesias. Analysis of PARK2 showed that the proband is compound heterozygous for a novel acceptor splice site mutation in intron 5 (IVS5-1G>A) and an exon 7 deletion. Neuropathologic assessment of an affected sibling revealed severe neuronal loss in the substantia nigra (SN) and loss of tyrosine hydroxylase immunopositive fibers in the striatum. No Lewy body pathology was observed using standard histology or immunohistochemistry for α-synuclein. Conclusions Consistent with most neuropathologic reports of patients with PARK2 mutations, we did not observe Lewy body inclusions, despite marked SN degeneration and severe dopaminergic denervation of the striatum. These data describe a novel splice site mutation and further extend the clinicopathological characterization of PARK2-associated PD.

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“…Barsottini et al 22 examined 119 patients with PD symptom onset before the age of 50 and found a 3.36% frequency of the PARK8 gene. Camargos et al 23 evaluated a sample of 202 patients with PD symptom onset before the age of 50 and found a familial case with mutation in the LRRK2 gene.…”

Section: Discussionmentioning

confidence: 99%

Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease

Chien

Figueiredo

Hollaender

et al. 2014

Arq. Neuro-Psiquiatr.

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Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson's disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable from idiopathic PD. Its prevalence varies according to the population studied ranging from less than 0.1% in Asians to 41% in North African Arabs. This study aimed to identify G2019S mutation in Brazilian idiopathic PD patients. Method: We sampled 100 PD patients and 100 age-and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR). Results: No G2019S mutations were found in both patients with sporadic PD and controls. Conclusions: Our results may be explained by the relatively small sample size.Keywords: Parkinson's disease, LRRK2, genetics. RESUMOMutação no gene LRRK2, predominantemente G2019S, foi descrita em indivíduos com doença de Parkinson (DP) esporádica ou herança autossômica dominante. A penetrância da mutação varia com a idade e há evidências de ancestral comum. As manifestações clínicas são indistinguíveis da DP idiopática. Sua prevalência depende da população estudada e varia de 0,1% em asiáticos a 41% em árabes do norte africano. O objetivo desse estudo foi identificar a mutação G2019S em brasileiros com DP esporádica. Método: Foram testados 100 pacientes com DP e 100 controles pareados por idade e sexo. A análise genética foi realizada pela reação em cadeia por polimerização (PCR). Resultados: Não foi encontrada a mutação G2019S nem nos pacientes com DP nem nos controles. Conclusão: É possível que nossos resultados sejam devidos ao pequeno número de pacientes incluídos.Palavras-chave: doença de Parkinson, LRRK2, genética.

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Clinical and molecular neuroimaging characteristics of Brazilian patients with Parkinson's disease and mutations in PARK2 or PARK8 genes

Cited by 13 publications

References 18 publications

Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis

Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis

A Peruvian family with a novel PARK2 mutation: Clinical and pathological characteristics

Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease

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