Swallowing disturbances in Parkinson's disease: A multivariate analysis of contributing factors

Cereda, Emanuele; Cilia, Roberto; Klersy, Catherine; Canesi, Margherita; Zecchinelli, Anna; Mariani, Claudio; Tesei, Silvana; Sacilotto, Giorgio; Meucci, N.; Zini, Michela; Isaias, Ioannis U.; Cassani, E.; Goldwurm, Stefano; Barichella, Michela; Pezzoli, Gianni

doi:10.1016/j.parkreldis.2014.09.031

Cited by 106 publications

(59 citation statements)

References 28 publications

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“…Such pneumonic changes are also described in human patients with neurodegenerative disorders like Parkinson's or Alzheimer's disease or stroke. It was supposed that aspiration pneumonia of these patients was the result of swallowing disturbances, which may be due to autonomic nervous system dysfunction (Kim et al 2000;Affoo et al 2013;Cereda et al 2014). This feature seems to be of special interest for the present study because dt-MP mice showed widespread neurodegenerative lesions in the brain stem, including nuclei important for the oral and pharyngeal phase of the swallowing process, namely the trigeminal nuclei and the pontine reticular formation (Lang 2009).…”

Section: Discussionmentioning

confidence: 83%

Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin

et al. 2016

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Dystonia musculorum is a neurodegenerative disorder caused by a mutation in the dystonin gene. It has been described in mice and humans where it is called hereditary sensory autonomic neuropathy. Mutated mice show severe movement disorders and die at the age of 3-4 weeks. This study describes the discovery and molecular, clinical, as well as pathological characterization of a new spontaneously occurring mutation in the dystonin gene in C57BL/6N mice. The mutation represents a 40-kb intragenic deletion allele of the dystonin gene on chromosome 1 with exactly defined deletion borders. It was demonstrated by Western blot, mass spectrometry, and immunohistology that mice with a homozygous mutation were entirely devoid of the dystonin protein. Pathomorphological lesions were restricted to the brain stem and spinal cord and consisted of swollen, argyrophilic axons and dilated myelin sheaths in the white matter and, less frequently, total chromatolysis of neurons in the gray matter. Axonal damage was detected by amyloid precursor protein and nonphosphorylated neurofilament immunohistology. Axonopathy in the central nervous system (CNS) represents the hallmark of this disease. Mice with the dystonin mutation also showed suppurative inflammation in the respiratory tract, presumably due to brain stem lesion-associated food aspiration, whereas skeletal muscles showed no pathomorphological changes. This study describes a novel mutation in the dystonin gene in mice leading to axonopathy in the CNS. In further studies, this model may provide new insights into the pathogenesis of neurodegenerative diseases and may elucidate the complex interactions of dystonin with various other cellular proteins especially in the CNS. KEYWORDS axonopathy; dystonia musculorum; dystonin deficiency; genomic deletion; spontaneous mutation A spontaneously occurring mutant was described in the mouse, in which the gene dystonin was affected (Ledoux 2011). Dystonin (Dst) [human gene name, DST; former name, bullous pemphigoid antigen 1 (BPAG1)] is a large cytoskeletal linker protein and crucial for maintaining cellular structural integrity (Young and Kothary 2008). Recent research in this field concentrates on the role of dystonin in central nervous tissue and neurological diseases, but not, however, on its parallel expression in musculature and skin.Mice with a mutated dystonin gene develop a severe sensory neuropathy called dystonia musculorum (Duchen 1976). Characteristics are a progressive loss of coordination of the limbs (ataxia) and an early death (Kothary et al. 1988;Guo et al. 1995). There are only few reports about patients with mutations of the human dystonin gene (Giorda et al. 2004;Groves et al. 2010;Edvardson et al. 2012).Several dystonin isoforms are generated from one genomic locus of 400 kb. They are expressed in the central nervous system (CNS) (predominant neuronal isoform "a," 617 kDa and "n," 344 kDa), muscles (predominant muscle isoform "b," 834 kDa), and skin (predominant skin isoform "e," 302 kDa) ( Figure 1 Pool et al...

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Section: Discussionmentioning

confidence: 83%

Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin

et al. 2016

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“…[4][5][6] Few studies have explored the contributing factors for PD-related dysphagia, but one did suggest that gender, age, disease duration, and dementia might all contribute. 7 However, several reports indicate that dysphagia does not show a clear correlation with either disease duration or motor symptom severity. 5,8,9 Despite its importance, the exact nature and pathophysiology underlying PD-related dysphagia remains unclear.…”

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confidence: 99%

Cognitive and Motor Aspects of Parkinson’s Disease Associated with Dysphagia

Kim

Youn

Suh

et al. 2015

Can. J. Neurol. Sci.

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Background: Dysphagia is a common symptom and an important prognostic factor in Parkinson's disease (PD). Although cognitive and motor dysfunctions may contribute to dysphagia in patients with PD, any specific association between such problems and swallowing functions is unclear. Here, we examined the potential relationship between cognitive/motor components and swallowing functions in PD. We evaluated the contributions of cognition and motor function to the components of swallowing via video fluoroscopic swallowing (VFS) experiments. Methods: We prospectively enrolled 56 patients without dementia having PD. Parkinson's disease severity was assessed by the Unified Parkinson's Disease Rating Scale (UPDRS). All participants received neuropsychological tests covering general mental status, visuospatial function, attention, language, learning and memory, and frontal executive function. The well-validated "modified barium swallow impairment profile" scoring system was applied during VFS studies to quantify swallowing impairments. Finally, correlations between neuropsychological or motor functions and impairment in swallowing components were calculated. Results: The most significant correlations were found between the frontal/executive or learning/memory domains and the oral phase of swallowing, though a minor component of the pharyngeal phase correlated with frontal function as well. Bradykinesia and the UPDRS total score were associated with both the pharyngeal and oral phases. Conclusions: Our findings suggest that cognitive dysfunctions are associated with the oral phase of swallowing in patients with early stage PD while the severity of motor symptoms may be associated with overall swallowing function.RÉSUMÉ: Aspects cognitifs et moteurs de la maladie de Parkinson qui sont associés à la dysphagie. Contexte : La dysphagie est un symptôme fréquent de la maladie de Parkinson (MP) et constitue un facteur de prédiction important dans cette maladie. Bien que les dysfonctions cognitives et motrices puissent contribuer à la dysphagie chez les patients atteints de la MP, une association spécifique entre ces problèmes et la déglutition demeure incertaine. Nous avons examiné une relation potentielle entre les composantes cognitives/motrices et la déglutition dans la MP. Nous avons évalué la contribution de la fonction cognitive et de la fonction motrice aux différentes composantes de la déglutition au moyen de la vidéofluoroscopie (DVF). Méthode : Nous avons recruté prospectivement 56 patients atteints de la MP, sans démence. La sévérité de la MP a été évaluée au moyen de la Unified Parkinson's Disease Rating Scale (UPDRS). Tous les participants ont subi des tests neuropsychologiques évaluant l'état mental général, la fonction visuospatiale, l'attention, le langage, l'apprentissage, la mémoire ainsi que les fonctions exécutives frontales. Le système « modified barium swallow impairment profile », un système d'évaluation validé, a été utilisé au cours des études de DVF pour quantifier l'atteinte de la fonction de d...

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“…Além dessas alterações, comumente são detectados distúrbios fonoaudiológicos que podem ocorrer devido à rigidez muscular nos órgãos fonoarticulatórios (língua, lábios, bochecha, laringe), tremor destes mesmos órgãos e lentidão e falta de coordenação dos movimentos e podem comprometer consideravelmente a comunicação e alimentação do indivíduo parkinsoniano com alterações na voz 3,[9][10][11] , disartria 3,9-11 e disfagia [2][3][4]9,[12][13][14][15][16][17][18][19] . A disfagia é um distúrbio de deglutição que pode alterar o trânsito do bolo alimentar da boca ate o estôma-go, podendo causar desnutrição, desidratação e até levar à morte na doença de Parkinson que ocorre devido à dissociação motora nos movimentos automáticos e voluntários da deglutição, causados pela acinesia, bradicinesia e rigidez 3,9,12,[14][15][16][17][18] . Existem alterações na fase oral como: tremor dos órgãos fonoarticulatórios, alterações na formação do bolo alimentar, diminuição de saliva e/ou escape salivar, limitação dos movimentos da língua e diminuição do reflexo da deglutição, com possível acúmulo de alimentos em cavidade oral e perda prematura de alimento 9,[13][14][15][16][17]19 .…”

Section: Impacto Na Qualidade De Vida De Portadores De Doença De Parkunclassified

“…A disfagia é um distúrbio de deglutição que pode alterar o trânsito do bolo alimentar da boca ate o estôma-go, podendo causar desnutrição, desidratação e até levar à morte na doença de Parkinson que ocorre devido à dissociação motora nos movimentos automáticos e voluntários da deglutição, causados pela acinesia, bradicinesia e rigidez 3,9,12,[14][15][16][17][18] . Existem alterações na fase oral como: tremor dos órgãos fonoarticulatórios, alterações na formação do bolo alimentar, diminuição de saliva e/ou escape salivar, limitação dos movimentos da língua e diminuição do reflexo da deglutição, com possível acúmulo de alimentos em cavidade oral e perda prematura de alimento 9,[13][14][15][16][17]19 .…”

Section: Impacto Na Qualidade De Vida De Portadores De Doença De Parkunclassified

“…Alem disso, há alterações na fase faríngea como: atraso no início dessa fase originando estase em valéculas e seios piriformes causando riscos de penetração e aspiração laríngea que ocorrem em mais da metade dos pacientes com DP 9,[13][14][15][16][17]19 . Estas alterações independem do tempo de diagnóstico e da fase da doença o que prejudicam consideravelmente a qualidade de vida destes indivíduos 3,[9][10][11][13][14][15][16][17]19 .…”

Section: Impacto Na Qualidade De Vida De Portadores De Doença De Parkunclassified

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Impact on the quality of life of patients whit Parkinson’s Disease with risk of dysphagia

Freire

Rieder

Schuh

et al. 2015

RNC

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RESUMOObjetivo. Avaliar o impacto na qualidade de vida de portadores da Doença de Parkinson (DP) com risco para disfagia. Método. Participaram pacientes com DP do ambulatório de Distúrbios do Movimento de um hospital de Porto Alegre; com classificação da doença pela escala Hoehn & Yahr; que responderam questionário fonoaudiológico, questionário EAT-10 e questionário SWAL-QOL. Resultados. A amostra foi composta de 25 sujeitos: 16 (64%) do sexo masculino. A média de idade foi de 64,5 anos e do tempo de doença de 11 anos. 18 (72%) participantes possuem H&Y entre 2 e 3. Houve correlação do questionário SWAL-QOL com o questionário fonoaudiológico, no domínio fadiga com queixa de emagrecimento recente (p=0,01), com mudança na consistência alimentar (p=0,015), com a atual consistência ingerida pelo paciente (p=0,02) e com alteração na fase oral (p=0,04); o domínio duração da alimentação com presença de escape anterior de saliva (p=0,01) e com a consistência referida na queixa (p=0,045); o domínio comunicação com alteração na fase oral (p=0,04) e com alimentação atual (p=0,036) e o domínio frequência dos sintomas com alteração na mastigação (p=0,038). Conclusão. Verificou-se que os portadores de DP com risco para disfagia sofrem impacto na qualidade de vida, principalmente, no domínio da comunicação oral. ABSTRACTObjective. To evaluate the impact on the quality of life of patients whit parkinson's disease with risk of dysphagia. Method. This study included patients with DP with risk of dysphagia who attended at the movement disorders clinic from a hospital in Porto Alegre. With disease staging according to the Hoehn & Yahr scale for disease severity; answered a Speech Therapy questionnaire, EAT-10 questionnaire and SWAL-QOL questionnaire. Results. The sample consisted in 25 patients: 16 (64%) male. The average age was 64.5 and the average disease duration was 11 years. 18 (72%) participants had H&Y between 2 and 3. The correlation between the SWAL-QOL and the Speech Therapy questionnaire were correlated with tiredness area and recent weight loss (p=0.01), change in the food consistency (p=0.015), current consistency ingested (p=0.02) and oral phase alteration (p=0,04); nutrition length area and saliva releasing (p=0.01) and consistency about dysphagia complaint (p=0.045); communication area (p=0.04) and oral phase alteration (p=0.036) as well as current nutrition and the area frequency of the symptoms and chewing alterations (p=0.038). Conclusion. It has been found that patients with Parkinson's disease with risk of dysphagia sufferers impact on quality of life, especially in the field of oral communication.

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Swallowing disturbances in Parkinson's disease: A multivariate analysis of contributing factors

Cited by 106 publications

References 28 publications

Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin

Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin

Cognitive and Motor Aspects of Parkinson’s Disease Associated with Dysphagia

Impact on the quality of life of patients whit Parkinson’s Disease with risk of dysphagia

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