<scp>SPG15</scp>: A Rare Correlation with Atypical Juvenile Parkinsonism Responsive to Levodopa

Araujo, Filipe Miranda Milagres; Marques, Wilson; Tomaselli, Pedro J.; Pimentel, Angela Vieira; Brito, Manuelina; Tumas, Vítor

doi:10.1002/mdc3.13027

Cited by 6 publications

(6 citation statements)

References 10 publications

(10 reference statements)

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“…28,29 esclerose lateral amiotrófica. 33,34,35,36 O afinamento do corpo caloso também é uma anormalidade frequente em SPG11 e SPG15. 37,38 SPG35 (FA2H), é uma causa de NBIA (neurodegeneration with brain iron accumulation), se apresentando com deposição anormal de ferro nos gânglios da base, e seu espectro fenotípico é variável, compreendendo casos de paraparesia, distonia e até leucodistrofia.…”

Section: Paraplegias Espásticas Hereditárias Autossômicas Dominantes ...unclassified

“…68 No entanto, a resposta a esse teste deve ser avaliada com cautela, visto que há formas descritas de PEH de início juvenil com resposta satisfatória ao uso de levodopa. 36,68 Casos de início na infância devem ter o diagnóstico diferencial com paralisia cerebral na sua forma diplégica. Pacientes que manifestam períodos de estabilidade após anos de progressão, devem ser diferenciados de casos de polineuropatia hereditária de Charcot-Marie.…”

Section: Hereditáriasunclassified

“…77,78 Sinais e sintomas de parkinsonismo devem ser investigados ativamente, uma vez que podem se beneficiar do uso do levodopa. 36,68,79,80 e tremor nas mãos acompanhando a paraplegia espástica. 5 Mason e Reinhoff, em 1920, reportaram quatro casos de PEH que manifestavam tremor grave acometendo a mandíbula, língua, braços e mãos.…”

Section: Hereditáriasunclassified

“…Achados relacionados à desmielinização da substância branca encefálica, apesar de inespecíficos, também podem auxiliar no direcionamento diagnóstico, especialmente o "sinal das orelhas do lince", já reconhecido como uma alteração comum para alguns subtipos genéticos como SPG11 e SPG15. 34,36 corpo caloso e alterações da substância branca profunda. 20,97 Tremor é o DM mais implicado ao SPG4, chegando a se manifestar em 10% dos casos.…”

Section: Achados De Neuroimagemunclassified

“…128,131,132 induzidas pela terapia dopaminérgica. 36 Esta revisão contempla 10 casos de SPG15 que manifestaram DMs, incluindo, além de parkinsonismo, tremor postural, tremor de repouso, tremor ortostático, distonia oromandibular, distonia em membros e discinesia facial.…”

Section: Spg11unclassified

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Distúrbios do movimento como manifestações das paraplegias espásticas hereditárias: uma revisão sistemática

Araujo¹

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Hereditary spastic paraplegias (HSP) are a group of genetically heterogeneous diseases characterized by progressive degeneration of the corticospinal tracts. They are clinically differentiated into pure forms, in which the manifestations are restricted to the presence of spasticity and paresis of the lower limbs, with eventual involvement of bladder control and hypopalesthesia, and in complex forms, in which other neurological and clinical signs and symptoms are present. Among these additional manifestations are movement disorders (MD), which occur due to the involvement of the motor system, with involvement of the extrapyramidal and cerebellar systems. The genetic and phenotypic heterogeneity of HSPs contributes to make their diagnosis difficult. Recognizing the main clinical manifestations associated with the complex phenotype of HSP is critical for clinical suspicion. Although useful, classifications based on mode of inheritance and clinical distinctions between pure and complex forms remain confusing to the neurologist. Thus, it may be interesting to reconsider the practical approach and the semiological classification of this disorder by focusing on clinical phenotypes. Numerous publications of case reports and case series linking new neurological and non-neurological manifestations to the phenotype of HSP have been published, but MD, except ataxia, have never been the main subject of discussion in a review. Considering the prevalence of movement disorders in patients with HSP, a Systematic Review on the subject is of great relevance. The present study aimed to carry out a Systematic Review of the literature with the purpose of describing the forms of MD described as a manifestation of HSP. We carried out a systematic search in the literature published in the five electronic databases, PubMed, Embase, Scopus, SciElo and LILACS, which were accessed between September/2020 and January/2021. Search limits were set to include only english-language articles published in peer-reviewed journals during any period. The review considered in the end 93 articles describing 150 patients with HSP and MD for analysis. Most of these cases had disease with autosomal recessive inheritance (85.3%), and 19.3% of them had MD as an initial manifestation. Various forms of dystonia, tremor, parkinsonism, dyskinesias, chorea, and myoclonias were described as clinical presentations of HSP, with dystonia being the most frequent problem (35% of cases). There are cases of parkinsonism, dystonia and tremors described with good response to levodopa. Most of the cases presented alterations in neuroimaging exams that have already been associated with HSP. It was not possible to associate any genetic type of HSP to a specific clinical presentation of MD.

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