Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes

Macedo‐Souza, Lúcia Inês; Kok, Fernando; Santos, Silvana; Licinio, Luciana; Lezirovitz, Karina; Cavaçana, Natale; Bueno, Clarissa; Amorim, Simone; Pessoa, André Luiz Santos; Graciani, Zódja; Ferreira, Áurea Fávero; Prazeres, Abdísio; Melo, Alan Peres Ferraz de; Otto, Paulo Alberto; Zatz, Mayana

doi:10.1111/j.1469-1809.2009.00507.x

Cited by 33 publications

(27 citation statements)

References 8 publications

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“…Recently, members of our group described a new neurological autosomal recessive syndrome, known as SPOAN, affecting families living in the state of Rio Grande do Norte in Northeast Brazil (Macedo-Souza et al , 2005, 2009). Since most of the affected subjects were inbred, we became interested not only in evaluating the consanguinity rates in the region, but also in developing a project to study the consequences of these rates on morbidity.…”

Section: Introductionmentioning

confidence: 99%

Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders

et al. 2010

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A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of “deficiencies” (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general. This prompted us to conduct a study of consanguinity levels in five of its municipal districts by directly interviewing their inhabitants. Information on 7,639 couples (corresponding to about 40% of the whole population of the studied districts) was obtained. The research disclosed the existence of very high frequencies of consanguineous marriages, which varied from about 9% to 32%, suggesting the presence of a direct association between genetic diseases such as the SPOAN syndrome, genetic drift and inbreeding levels. This fact calls for the introduction of educational programs for the local populations, as well as for further studies aiming to identify and characterize other genetic conditions. Epidemiological strategies developed to collect inbreeding data, with the collaboration of health systems available in the region, might be very successful in the prospecting of genetic disorders.

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Section: Introductionmentioning

confidence: 99%

Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders

et al. 2010

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“…, 2007), SPG4 (Starling et al , 2002b; Mitne-Neto et al , 2007a), or X-linked SPG (Starling et al , 2002a). Our group also described a new complicated autosomal recessive form of spastic paraplegia named SPOAN (spastic paraplegia, optic atrophy, neuropathy) (Macedo-Souza et al , 2005, 2009). SPOAN was identified in a geographically isolated region in the backlands of Northeastern Brazil, known for a high incidence of consanguineous marriages.…”

Section: Mapping and Identification Of New Genesmentioning

confidence: 99%

Neuromuscular disorders: genes, genetic counseling and therapeutic trials

2016

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Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies have been incorporated since then. Next generation sequencing greatly improved our capacity to identify disease-causing mutations with important benefits for research and prevention through genetic counseling of patients' families. Stem cells researches, from and for patients, have been used as tools to study human genetic diseases mechanisms and for therapies development. The clinical effect of preclinical trials in mice and canine models for muscular dystrophies are under investigation. Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country.

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“…discussion SPOAN is a complicated form of HSP which leads to an early and severe handicap 1,2 . Nevertheless, SPRS and FHSPS, the two available scales for HSP evaluation, were not useful indicators of disease progression, as most patients achieve early in life high scores in both scales.…”

Section: For Data Analysis Sample Was Divided According To Age In Fimentioning

confidence: 99%

“…Age at ascertainment ranged from 5 to 72 years [mean age of 34 (±13) years]. Clinical data of those patients have already been presented elsewhere 1,2 . Information used in this study was collected through direct observation and with patients interview, usually conducted close to their hometown.…”

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Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN)

Graciani

Santos

Macedo‐Souza

et al. 2010

Arq. Neuro-Psiquiatr.

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Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral neuropathy. In this study, which included 61 individuals (age 5-72 years, 42 females) affected by SPOAN, a comprehensive motor and functional evaluation was performed, using modified Barthel index, modified Ashworth scale, hand grip strength measured with a hydraulic dynamometer and two hereditary spastic paraplegia scales. Modified Barthel index, which evaluate several functional aspects, was more sensitive to disclose disease progression than the spastic paraplegia scales. Spasticity showed a bimodal distribution, with both grades 1 (minimum) and 4 (maximum). Hand grip strength showed a moderate inverse correlation with age. Combination of early onset spastic paraplegia and progressive polyneuropathy make SPOAN disability overwhelming. Key words: hereditary spastic paraplegia, peripheral nervous system disorder, optic atrophy, scales, psychomotor performance.Avaliação motora e funcional de pacientes com paraplegia espástica, atrofia óptica e neuropatia (spoAn) resumo A paraplegia espástica, atrofia óptica e neuropatia (SPOAN) é uma forma complicada de paraplegia espástica de herança autossômica recessiva, caracterizada por atrofia óptica congênita, paraplegia espástica progressiva de início na infância e neuropatia periférica. Este estudo avaliou o desempenho motor e funcional de 61 indivíduos com SPOAN (5 a 72 anos), por meio do índice de Barthel modificado, a escala modificada de Ashworth, da avaliação da força de preensão das mãos com dinamômetro hidráulico de Jamar e escalas de paraplegia espástica hereditária. O índice de Barthel modificado, que investiga aspectos funcionais, mostrou-se mais sensível para avaliar a progressão da doença do que as escalas de paraplegia espástica. A espasticidade apresentou distribuição bimodal, com o grau 1 (mínimo) e 4 (máximo). A força de preensão mostrou correlação inversa moderada com a idade. A combinação de paraplegia espástica de início precoce com polineuropatia progressiva faz da SPOAN uma condição incapacitante. Palavras-chave: paraplegia espástica hereditária, doença do sistema nervoso periférico, atrofia óptica, escalas, performance psicomotora.

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Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes

Cited by 33 publications

References 8 publications

Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders

Inbreeding levels in Northeast Brazil: strategies for the prospecting of new genetic disorders

Neuromuscular disorders: genes, genetic counseling and therapeutic trials

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN)

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