Amyotrophic Lateral Sclerosis and Its Association With Dementia, Parkinsonism and Other Neurological Disorders: A Review

Hudson, Arthur J.

doi:10.1093/brain/104.2.217

Cited by 356 publications

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“…The association of ALS and FTD with other neurological phenotypes is widely known from the past 36 , including the first descriptions of FTD-ALS complex about 40 years ago. C9orf72 repeat expansions are involved with a wide spectrum of neurological manifestations 37,38 , involving motor and nonmotor (cognitive and behavioral) phenotypes (syndromes) 38 ( Figure 4).…”

Section: Clinical and Laboratory Characterizationmentioning

confidence: 99%

C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases

Souza

Pinto

Oliveira

2015

Arq. Neuro-Psiquiatr.

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Neurodegenerative diseases represent a heterogeneous group of neurological conditions primarily involving dementia, motor neuron disease and movement disorders. They are mostly related to different pathophysiological processes, notably in family forms in which the clinical and genetic heterogeneity are lush. In the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of C9orf72 gene. This review analyzes the main clinical, radiological and genetic aspects of the phenotypes related to the hexanucleotide repeat expansions (GGGGCC) of C9orf72 gene. Future studies will aim to further characterize the neuropsychological, imaging and pathological aspects of the extra-motor features of motor neuron disease, and will help to provide a new classification system that is both clinically and biologically relevant.Keywords: neurodegenerative diseases, motor neuron disease, frontotemporal dementia, parkinsonism, C9orf72. RESUMOAs doenças neurodegenerativas representam um grupo heterogêneo de condições neurológicas envolvendo fundamentalmente síndromes demenciais, doenças do neurônio motor e distúrbios de movimento. Relacionam-se, em sua maioria, a processos fisiopatológicos distintos, destacadamente nas formas familiares em que a heterogeneidade clínica e genética são exuberantes. Na última década, muito conhecimento se acumulou a respeito da genética das doenças neurodegenerativas, tornando-se bastante importante nos casos de doenças do neurônio motor e de demência frontotemporal as expansões de repetições do gene C9orf72. Esta revisão aborda os principais aspectos clínicos, radiológicos e genéticos relativos aos fenótipos relacionados à expansão de repetição do hexanucleotídeo (GGGGCC) no gene C9orf72. Estudos futuros vão objetivar a caracterização dos aspectos neuropsicológicos, de imagem e patológicos dos achados extra-motores da doença do neurônio motor e ajudarão a fornecer um novo sistema de classificação relevante em termos clínicos e biológicos.Palavras-chave: doenças neurodegenerativas, doença do neurônio motor, demência frontotemporal, parkinsonismo, C9orf72.

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Section: Clinical and Laboratory Characterizationmentioning

confidence: 99%

C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases

Souza

Pinto

Oliveira

2015

Arq. Neuro-Psiquiatr.

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“…Two kinds of observation opened the discussion. First, clinical case studies were published, reporting the association of MND with dementia [1]. While in the early reports the clinical features of dementia were not described in detail, in 1990 Neary and colleagues [2], reported four cases in a landmark paper in which the pattern of neuropsychological impairment, the single PET imaging data and the pathological findings "resembled those of dementia of frontal-lobe type and were distinct from those of Alzheimer's disease."…”

Section: Future Neurology Part Ofmentioning

confidence: 99%

The Behavioral/Cognitive Status of Motor Neuron Disease Patients Should Be Assessed With Disease-Specific Tools

Cappa

2013

Future Neurol.

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Evaluation of: Raaphorst J, Beeldman E, Schmand B et al. The ALS-FTD-Q: a new screening tool for behavioral disturbances in ALS. Neurology 79(13), 1377–1383 (2012). The issue of cognitive and behavioral disorders in motor neuron disease is the focus of intensive investigation. The screening tool developed by Raaphorst et al. represents a clinically significant advancement, because of its excellent psychometric properties. Further studies are needed to assess the relationship between behavioral disturbances, executive dysfunction and social cognition impairment in motor neuron disease.

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“…Some patients developed typical ALS in this early period either independently of, or in addition to, parkinsonism. 28 Late onset post-encephalitic parkinsonism Onset of parkinsonism appeared sometimes within a year or as many as 20 years following encephalitis. 26 The average age of onset was about 40 years or more.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…Post-encephalitic ALS has received remarkably little attention although there are at least 25 case reports with upper and lower motor neuron signs, some with bulbar involvement, that were indistinguishable from classical ALS. 28 The average age of the encephalitis was 28 years and the interval to onset of ALS averaged 10 years. Parkinsonism accompanied ALS in two-thirds of the cases and usually appeared before or at the same time as ALS.…”

Section: Clinical Featuresmentioning

confidence: 99%

Similarities of Guamanian ALS/PD to Post-Encephalitic Parkinsonism/ALS: Possible Viral Cause

Hudson

Rice

1990

Can. j. neurol. sci.

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Guamanian amyotrophic lateral sclerosis with parkinsonism-dementia (ALS/PD) has been the subject of intensive study since its discovery in 1947 because of its extraordinarily high incidence in a small ethnic group (Chamorros) whose dietary lack and customs have suggested possible causes. As yet, these and other suspected causes have eluded proof. Because of marked similarities between Guamanian ALS/PD and late onset post-encephalitic (encephalitis lethargica) parkinsonism and ALS it is suggested that they have a common cause. The parkinsonism and ALS in the two disorders are clinically very similar and neuropathological studies have shown a very similar distribution of neurofibrillary tangles in neurons. Some clinical differences, such as ocular features in the post-encephalitic cases and dementia in Guamanian ALS/PD, can be explained by differences in the severity of infection and the interval between the encephalitis and onset of sequelae. Although unproven, influenza A (HswilNl strain) has long been suspected as the cause of encephalitis lethargica because of simultaneous pandemics of the two diseases in the 1920s. Because influenza A can persistently infect cells and has a marked propensity to mutate it is an optimal candidate among other RNA viruses for delayed nervous system infection as a possible cause of ALS/PD. RESUME: Ressemblances de la SLA/MP de Guam et du parkinsonisme/SLA post-encephalitique: une cause virale possible La sclerose laterale amyotrophique avec parkinsonisme et demence de Guam (SLA/MP) a fait I'objet d'6tudes intensives depuis sa decouverte en 1947, a cause de son incidence extraordinairement elevee dans un petit groupe ethnique (Chamorros) ou Ton a soupconne des deficiences dietetiques et certaines coutumes comme causes possibles de la maladie. A date t il a ete impossible d'apporter des preuves en ce sens ou de confirmer le role de toutc autre cause qu'on a coupgonne. A cause d'une grande ressemblance entre la SLA/MP de Guam et du parkinsonisme postencephalitique (enc£phalite lethargique) a debut tardif avec SLA, nous suggerons qu'ils ont une cause commune. Lc parkinsonisme et la SLA dans les deux maladies sont cliniquement tres semblables et les etudes neuropathologiqucs ont montre' une distribution tres similaire des amas neurofibrillaires dans les neurones. Certaines differences cliniqucs, telles les manifestations oculaires dans les cas post-encephalitiques et la demence dans la SLA/MP de Guam, peuvent etre expliquees par des differences dans la severite de l'infection et l'intervalle entre l'encephalite et l'appartion des s6quelles. Bien qu'on n'en ait aucune preuve, le virus de 1'influenza A (la souche HswilNl) a longtempts ete soup£onne comme etant la cause de l'encephalite lethargique a cause de pandemies simultanees de ces deux maladies dans les anndes 1920. Parce que le virus de I'influenza A peut causer une infection cellulaire persistante et qu'il a une tendance marquee a la mutation, il est un candidat de choix comme cause possible de la SLA/MP parmi les virus...

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Amyotrophic Lateral Sclerosis and Its Association With Dementia, Parkinsonism and Other Neurological Disorders: A Review

Cited by 356 publications

References 0 publications

C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases

C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases

The Behavioral/Cognitive Status of Motor Neuron Disease Patients Should Be Assessed With Disease-Specific Tools

Similarities of Guamanian ALS/PD to Post-Encephalitic Parkinsonism/ALS: Possible Viral Cause

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