Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy

Montuschi, Anna; Iazzolino, Barbara; Calvo, Andrea; Moglia, Cristina; Lopiano, Leonardo; Restagno, Gabriella; Brunetti, Maura; Ossola, Irene; Presti, Anna Lo; Cammarosano, Stefania; Canosa, Antonio; Chiò, Adriano

doi:10.1136/jnnp-2013-307223

Cited by 245 publications

(230 citation statements)

References 28 publications

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“…The study showed a high prevalence of ALS patients with either cognitive or behavioral impairment, in line with a growing literature of population-based studies [3,4,21,22]. In our series, 10.8% of patients fulfilled criteria for a behavioral variant FTD diagnosis, almost half of the patients presented either cognitive (ALS-ci) or behavioral (ALS-bi) impairment, and 39.2% showed no disturbances.…”

Section: Discussionsupporting

confidence: 70%

Exploring Olfactory Function and Its Relation with Behavioral and Cognitive Impairment in Amyotrophic Lateral Sclerosis Patients: A Cross-Sectional Study

Padovani

Rossi²,

Rinaldi³

et al. 2016

Neurodegener Dis

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Background: Behavioral and cognitive impairment are common in amyotrophic lateral sclerosis (ALS) and represent a continuum with frontotemporal dementia (FTD). Olfactory dysfunction has been described in a subset of ALS patients and might be associated with frontotemporal and insular cortex dysfunction. Objective: To evaluate olfaction dysfunction in ALS patients and its relationship with either cognition or behavioral impairment. Methods: 28 consecutive ALS patients underwent an extensive cognitive and behavioral battery and were classified as patients with normal cognition (ALS-N, n = 11) or with part of the ALS-FTD spectrum (n = 17), including either cognitive or behavioral impairment or dementia. Odor verbal and visual identification and discrimination were investigated in patients and age-matched controls using a test adapted from the Sniffin' Sticks. Results: Olfactory function was significantly different between ALS-FTD spectrum patients and controls (p < 0.001) and inversely correlated with behavioral and cognitive performance. The 10-point cutoff distinguished ALS-N from ALS-FTD spectrum patients with a sensitivity and specificity of 71 and 100%, respectively. Conclusions: Hyposmia is common in a subset of ALS patients and strongly associated with behavioral and cognitive impairment. Olfactory testing may represent an early screening tool in order to identify ALS subjects with cognitive/behavioral dysfunction. Further studies in larger series are mandatory in order to better investigate clinical and pathological aspects in this group of patients.

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Section: Discussionsupporting

confidence: 70%

Exploring Olfactory Function and Its Relation with Behavioral and Cognitive Impairment in Amyotrophic Lateral Sclerosis Patients: A Cross-Sectional Study

Padovani

Rossi²,

Rinaldi³

et al. 2016

Neurodegener Dis

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“…Previous Table 1 Demographic and clinical characteristics of patients with amyotrophic lateral sclerosis (ALS) with (C9Pos) and without (C9Neg) the pathogenic C9orf72 expansion descriptions of C9Pos patients are relatively small and do not include comparisons to a large, unselected cohort of C9Neg patients (table e-1). 3,23 Other than the presence of a family history of ALS and increased prevalence of FTD, these 2 groups were clinically similar at presentation to the clinic. The distribution of site of onset of disease in our cohort of C9Pos patients closely mirrored that of C9Neg patients and was typical of other ALS cohorts.…”

Section: Demographic and Clinical Information Acquisitionmentioning

confidence: 98%

“…Our finding of reduced overall survival in our C9Pos population compared to C9Neg patients is consistent with the published experience from other C9Pos cohorts. 3,4,8,22,23 In addition, we used a Cox proportional hazards model to determine the influence of variables other than the C9 mutation, such as Figure 1 Flowchart of family history of amyotrophic lateral sclerosis (ALS) in screened cohort A total of 781 cases were screened for the C9orf72 expansion. Of those 781, 90 cases had a known family history of ALS, while 691 had no known family history of ALS.…”

Section: Demographic and Clinical Information Acquisitionmentioning

confidence: 99%

Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population

Umoh

Fournier

et al. 2016

Neurology

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Objective: We investigated whether the C9orf72 expansion mutation in patients with amyotrophic lateral sclerosis (ALS) is associated with unique demographic and clinical features.Methods: Between 2001 and, approximately half of all patients attending the Emory ALS Clinic agreed to donate DNA for research. This research cohort of 781 patients was screened for the C9orf72 expansion, and demographic and clinical data were compared between those with and without the C9orf72 mutation. For mutation carriers without a family history of ALS, we sought further family history of dementia and other non-ALS neurodegenerative diseases in first-degree relatives.Results: The C9orf72 expansion was identified in 61 patients (7.8%). Compared to those without the expansion mutation, these patients did not differ in race, age, or site of onset. As expected, C9orf72 patients were more likely to have a family history of ALS (59% vs 7.9%) and to present with comorbid frontotemporal dementia (FTD) (14.8% vs 1.7%). Survival was shorter in patients with the expansion (log-rank x 2 [1] 5 45.323, p , 0.001). Further investigation in 28 patients initially categorized as having no known family history of ALS identified a family history of dementia in 16 cases; 6 of these had characteristics suggestive of FTD. Conclusions:Comparing the C9orf72 ALS population to the general ALS population, there were no differences in race, age at onset, or proportion of patients with bulbar onset disease. Differences identified in patients with the C9orf72 mutation included shortened survival and an equal proportion of men and women. In addition, we found that assessing family history for dementia may identify other family members likely to be carrying the C9orf72 expansion, reduce the number of sporadic cases, and thus increase our understanding of disease penetrance.

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“…Of these, approximately one third or more of familial ALS (fALS) can be attributed to the C9orf72 mutation [15]; SOD1 mutation accounts for 20 % of fALS, while mutations of TAR DNA-binding protein (TARDBP) (5-10 %), FUS RNA-binding protein (FUS) (5 %), are less frequent [14]. In one cohort of ALS-FTD patients, 26 % were found to be C9orf72 positive (6 out of 23 subjects) [16].…”

Section: Diagnosis and Geneticsmentioning

confidence: 97%

Cognitive Profile of C9orf72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Patel

Sampson

2015

Curr Neurol Neurosci Rep

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This review article focuses on the cognitive profile associated with the C9orf72 gene with GGGGCC (G4C2) hexanucleotide repeat expansions that is commonly found in both familial and sporadic forms of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) in order to aid clinicians in the screening process. In this growing clinical continuum between FTD and ALS, understanding and recognizing a neurocognitive profile is important for diagnosis. Key features of this profile include executive dysfunction with memory impairment and language deficits as the disease progresses. Behaviorally, patients are prone to disinhibition, apathy, and psychosis. With the discovery of this mutation, studies have begun to characterize the different phenotypes associated with this mutation in terms of epidemiology, clinical presentation, imaging, and pathology. Greater awareness and increased surveillance for this mutation will benefit patients and their families in terms of access to genetic counseling, research studies, and improved understanding of the disease process.

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Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy

Cited by 245 publications

References 28 publications

Exploring Olfactory Function and Its Relation with Behavioral and Cognitive Impairment in Amyotrophic Lateral Sclerosis Patients: A Cross-Sectional Study

Exploring Olfactory Function and Its Relation with Behavioral and Cognitive Impairment in Amyotrophic Lateral Sclerosis Patients: A Cross-Sectional Study

Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population

Cognitive Profile of C9orf72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

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