Characteristic Magnetic Resonance Imaging Findings in Machado-Joseph Disease

Murata, Yoshinori; Yamaguchi, Shinya; Kawakami, Hideshi; Imon, Yukari; Makino, Hírofumi; Sakai, Tetsuo; Kazuta, Toshinari; Ohtake, Toshiyuki; Nishimura, Masataka; Saida, Takahiko; Chiba, Susumu; Ohi, Takekazu; Nakamura, Shotaro

doi:10.1001/archneur.55.1.33

Cited by 129 publications

(111 citation statements)

References 14 publications

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“…These particularities may explain some of the differences we found 17 . In agreement to our data, reduced brainstem and cerebellar volume in MJD/ SCA3 patients has been widely demonstrated [9][10][11][12][13] . The most affected brain stem structure was the pons, with an average volume reduction of 35.7%.…”

Section: Discussionsupporting

confidence: 93%

“…It is noteworthy that our measurements included part of the cerebellar peduncles and not only the ventral pons, since it is impossible to define the cerebellar anterior limit and brain stem anatomically. It has already been demonstrated that the volumes of the peduncles are decreased in the disease and that there is a positive correlation between the width of the cerebellar peduncle and the diameter of the pons 12 . The most affected vermis subdivisions were V1 and V2 (with an average reduction of 37%) whereas V3 was relatively spared with an average reduction of 24%.…”

Section: Discussionmentioning

confidence: 95%

“…Some authors found a moderate olivary and cerebellar atrophy 10 , while others reported that cerebellar and brain stem atrophy are significantly more severe in SCA1 and SCA2, proposing that SCA2 and MJD/SCA3 could be distinguished by studying the velocity of the saccadic ocular movement and the diameter of the middle cerebellar peduncle 11 . Some authors reported that atrophy was age and disease-duration dependent, affecting moderately the cerebellum and more severely the brainstem, specially the pontine tegmentum 12 . These findings were not confirmed by others that found correlation with age at examination and CAG repeats but not with disease duration and clinical severity 8 .…”

Section: Machado Joseph Disease: Volumetric Analysismentioning

confidence: 99%

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Brain stem and cerebellum volumetric analysis of Machado Joseph disease patients

Camargos

Marques-Jr

Santos

2011

Arq. Neuro-Psiquiatr.

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Machado-Joseph disease, or spinocerebellar ataxia type 3(MJD/SCA3), is the most frequent late onset spinocerebellar ataxia and results from a CAG repeat expansion in the ataxin-3 gene. Previous studies have found correlation between atrophy of cerebellum and brainstem with age and CAG repeats, although no such correlation has been found with disease duration and clinical manifestations. In this study we test the hypothesis that atrophy of cerebellum and brainstem in MJD/SCA3 is related to clinical severity, disease duration and CAG repeat length as well as to other variables such as age and ICARS (International Cooperative Ataxia Rating Scale). Whole brain high resolution MRI and volumetric measurement with cranial volume normalization were obtained from 15 MJD/ SCA3 patients and 15 normal, age and sex-matched controls. We applied ICARS and compared the score with volumes and CAG number, disease duration and age. We found significant correlation of both brain stem and cerebellar atrophy with CAG repeat length, age, disease duration and degree of disability. The Spearman rank correlation was stronger with volumetric reduction of the cerebellum than with brain stem. Our data allow us to conclude that volumetric analysis might reveal progressive degeneration after disease onset, which in turn is linked to both age and number of CAG repeat expansions in SCA 3. Key words: CAG expansion, Machado-Joseph disease, MJD/SCA3, spinocerebellar ataxia, volumetry.Análise volumétrica de cerebelo e tronco cerebral de pacientes com doença de Machado Joseph RESUMO Doença de Machado-Joseph, ou ataxia espinocerebelar tipo 3 (MJD/SCA3) é ataxia espinocerebelar de início tardio mais frequente e resulta de uma expansão da repetição CAG no gene da ataxina-3. Estudos precedentes encontraram correlação entre a atrofia do cerebelo e do tronco cerebral com a idade e número de expansões CAG. Tais correlações não foram encontradas em relação ao tempo de doença ou manifestações clínicas. Neste estudo testamos a hipótese de que a atrofia do cerebelo e do tronco encefálico em MJD/SCA3 está relacionada à gravidade clínica, duração da doença e número de repetições CAG, bem como com outras variáveis como a idade e a ICARS (escala cooperativa internacional de avaliação de ataxias). Foram realizados estudos de imagem pela ressonância magnética de alta resolução e volumetria com normalização de volume craniano de 15 pacientes portadores de MJD/SCA3 e 15 controles pareados por idade e sexo. Nós aplicamos a ICARS e correlacionamos com o escore de volumes e número de CAG, duração da doença e idade. Encontramos correlação significativa entre atrofia de tronco cerebral e cerebelo com duração da doença, repetição CAG, idade e grau de acometimento da doença. O índice de correlação de Spearman foi maior em relação à atrofia de cerebelo do que à atrofia de tronco. Nossos dados permitem concluir que a análise volumétrica pode revelar degeneração progressiva após o início da doença que, por sua vez, está ligada à idade e número de expansões CAG em SCA 3...

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 95%

Section: Machado Joseph Disease: Volumetric Analysismentioning

confidence: 99%

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Brain stem and cerebellum volumetric analysis of Machado Joseph disease patients

Camargos

Marques-Jr

Santos

2011

Arq. Neuro-Psiquiatr.

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“…However, a study by Murata et al published in 1998 in which the authors used magnetic resonance imaging also showed the presence of pontocerebellar atrophy and atrophy of the globi pallidi and frontal and temporal lobes 2,3,26 .…”

Section: Sca 3 (Machado-joseph Disease)mentioning

confidence: 99%

“…The SCA types defined as SCA 4,5,11,13,14,15,18,19,20,21,22,23,25,26,27,28,29 and 30 represent very rare forms and have been diagnosed in a small number of cases in different parts of the world, some of which were only reported in isolated families.…”

Section: Scas -Very Rare Typesmentioning

confidence: 99%

Spinocerebellar ataxias

Teive¹

2009

Arq. Neuro-Psiquiatr.

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-Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. Objective: To carry out a clinical and genetic review of the main types of SCA. Method: The review was based on a search of the PUBMED and OMIM databases. Results: Thirty types of SCAs are currently known, and 16 genes associated with the disease have been identified. The most common types are SCA type 3, or Machado-Joseph disease, SCA type 10 and SCA types 7, 2, 1 and 6. SCAs are genotypically and phenotypically very heterogeneous. A clinical algorithm can be used to distinguish between the different types of SCAs. Conclusions: Detailed clinical neurological examination of SCA patients can be of great help when assessing them, and the information thus gained can be used in an algorithm to screen patients before molecular tests to investigate the correct etiology of the disease are requested.KEY WORDS: spinocerebellar ataxias, cerebellar atrophy, genotype, phenotype. Ataxias espinocerebelaresResumo -As ataxias espinocerebelares (AECs) compreendem um grupo heterogeneo de enfermidades neurodegenerativas, que se caracterizam pela presença de ataxia cerebelar progressiva, associada de forma variada com oftalmoplegia, sinais piramidais, distúrbios do movimento, retinopatia pigmentar, neuropatia periférica, disfunção cognitiva e demência. Objetivo: Realizar uma revisão clínico-genética dos principais tipos de AECs. Método: A revisão foi realizada através da pesquisa pelo sistema do PUBMED e do OMIM. Resultados: Na atualidade existem cerca de 30 tipos de AECs, com a descoberta de 16 genes. Os tipos mais comuns são a AEC tipo 3, ou doença de Machado-Joseph, a AEC tipo 10, e as AECs tipo 7, 2 1, e 6. As AECs apresentam grande heterogeneidade genotípica e fenotípica. Pode-se utilizar um algoritmo clínico para a pesquisa dos diferentes tipos de AECs. Conclusões: O exame clínico neurológico minucioso nos pacientes com AECs pode auxiliar sobremaneira na avaliação clínica destes pacientes, utilizando-se desta forma de um algoritmo, com os dados clínicos, que pode servir como um instrumento de triagem para a solicitação dos testes de genética molecular, para a correta investigação etiológica.

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