The amyotrophic lateral sclerosis (ALS) patient perspective on misdiagnosis and its repercussions

Belsh, Jerry M.; Schiffman, Philip L.

doi:10.1016/0022-510x(96)00088-3

Cited by 66 publications

(49 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This appears to be similar to the findings of previous studies [5,[8][9][10][11]13,[17][18][19][20], and it is in part related to misdiagnoses, the most frequent being discal hernia/cervical myelopathy and vascular pseudobulbar palsy. Furthermore, an early consultation with a neurologist does not seem to shorten the diagnostic delay.…”

Section: Discussionsupporting

confidence: 91%

“…The delay have been reported to range between eight and more than fifteen months (Table 4), with little improvement over the last years [8,11,13,[18][19][20][21], even after the creation of tertiary multidisciplinary ALS centres and prospective surveillance registries [4,5,9,10,17,22]. The delay is never less than eight months, although patients usually refer to a physician some three months after symptoms onset.…”

Section: Discussionmentioning

confidence: 99%

“…In particular, the frequency of initial misdiagnoses was 27% [18], 44% [11], 45% [22] and 61% [8] in several studies. We found a 31.1% of initial misdiagnoses which brought about a longer delay to the right diagnosis (i.e., 15 months), a result similar to that reported by Househam and Swash [8].…”

Section: Independent Variablementioning

confidence: 97%

See 2 more Smart Citations

Factors affecting the diagnostic delay in amyotrophic lateral sclerosis

Cellura

Spataro

Taiello

et al. 2012

Clinical Neurology and Neurosurgery

108

101

View full text Add to dashboard Cite

a b s t r a c tBackground: Although amyotrophic lateral sclerosis (ALS) is a relentlessly progressive disorder, early diagnosis allows a prompt start with the specific drug riluzole and an accurate palliative care planning. ALS at onset may however mimic several disorders, some of them treatable (e.g., multifocal motor neuropathy) or epidemiologically more frequent (e.g., cervical myelopathy). Objective: To study the delay from onset to diagnosis in a cohort of ALS patients and to the variables that may affect it. Methods: We performed a retrospective analysis of the diagnostic delays in a cohort of 260 patients affected by ALS (M/F = 1.32) followed at our tertiary referral ALS Center between 2000 and 2007.Results: The median time from onset to diagnosis was 11 months (range: 6-21) for the whole ALS cohort, 10 months (range: 6-15) in bulbar-onset (n = 65) and 12 months (range: 7-23) in spinal-onset (n = 195) patients (p = 0.3). 31.1% of patients received other diagnoses before ALS and this led to a significant delay of the correct diagnosis in this group (other diagnoses before ALS, n = 81: median delay, 15 months [9.75-24.25] vs ALS, n = 179, median delay, 9 months [6-15.25], p < 0.001). Conclusions: The diagnostic delay in ALS is about one year, besides the growing number of tertiary centres and the spread of information about the disease through media and internet. Cognitive errors based on an incorrect use of heuristics might represent an important contributing factor. Furthermore, the length of the differential diagnosis from other disorders and delays in referral to the neurologist seems to be positively associated with the delay in diagnosis.

show abstract

Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Factors affecting the diagnostic delay in amyotrophic lateral sclerosis

Cellura

Spataro

Taiello

et al. 2012

Clinical Neurology and Neurosurgery

108

101

View full text Add to dashboard Cite

show abstract

“…Indeed, the proportion of misdiagnosis appears greater in subjects aged 60 and over [21]. Also, the differential diagnosis may be more challenging in the oldest subjects [18].…”

Section: Discussionmentioning

confidence: 99%

Characteristics and Prognosis of Oldest Old Subjects with Amyotrophic Lateral Sclerosis

Dandaba

Couratier²,

Labrunie³

et al. 2017

Neuroepidemiology

View full text Add to dashboard Cite

Background: Amyotrophic Lateral Sclerosis (ALS) is an age-related neurodegenerative disease with unclear characteristics and prognosis in the oldest old (80 years and over). The aim of this study was to compare the oldest old and younger ALS patients in terms of clinical and socio-demographic characteristics, and prognosis. Methods: ALS incident cases from the register of ALS in Limousin (FRALim), diagnosed between January 2000 and July 2013, were included. Descriptive and comparative analyses by age group were carried out. For time to event univariate analysis, Kaplan-Meier estimator and log rank test were used. Univariate and multivariate survival analyses were carried out with Cox's proportional hazard model. Results: Out of 322 patients, 50 (15.5%) were aged 80 or over (“oldest old” ALS) at the time of diagnosis. Among them, the male:female gender-ratio was 1.27, and 32.6% had a bulbar onset (not different from subjects aged less than 80 years). With increasing age, there was a worsening of the clinical state of the patients at time of diagnosis in terms of weight loss, forced vital capacity, ALSFRS-R and manual muscular testing. Access to ALS referral centres decreased with age, and the use of riluzole tended to be lower in the oldest old group. The median survival of oldest old patients appeared to be 10 months shorter than that of subjects aged less than 80 years (7.4 vs. 17.4 months). Conclusion: The survival of oldest old ALS patients is particularly short. It relates to prognostic features at baseline and to an independent effect of advanced age.

show abstract

“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive muscle atrophy and four-limb paralysis due to the loss of both upper and lower motor neurons in the cortex, brainstem, and spinal cord [1]. Familial ALS (fALS), which accounts for 10% of total ALS cases, is commonly caused by mutations in a heterogeneous set of genes.…”

Section: Introductionmentioning

confidence: 99%

Downregulation of Homer1b/c in SOD1 G93A Models of ALS: A Novel Mechanism of Neuroprotective Effect of Lithium and Valproic Acid

Jiang

Wang

Yin

et al. 2016

IJMS

View full text Add to dashboard Cite

Background: Mutations in the Cu/Zn superoxide dismutase (SOD1) gene have been linked to amyotrophic lateral sclerosis (ALS). However, the molecular mechanisms have not been elucidated yet. Homer family protein Homer1b/c is expressed widely in the central nervous system and plays important roles in neurological diseases. In this study, we explored whether Homer1b/c was involved in SOD1 mutation-linked ALS. Results: In vitro studies showed that the SOD1 G93A mutation induced an increase of Homer1b/c expression at both the mRNA and protein levels in NSC34 cells. Knockdown of Homer1b/c expression using its short interfering RNA (siRNA) (si-Homer1) protected SOD1 G93A NSC34 cells from apoptosis. The expressions of Homer1b/c and apoptosis-related protein Bax were also suppressed, while Bcl-2 was increased by lithium and valproic acid (VPA) in SOD1 G93A NSC34 cells. In vivo, both the mRNA and protein levels of Homer1b/c were increased significantly in the lumbar spinal cord in SOD1 G93A transgenic mice compared with wild type (WT) mice. Moreover, lithium and VPA treatment suppressed the expression of Homer1b/c in SOD1 G93A mice. Conclusion: The suppression of SOD1 G93A mutation-induced Homer1b/c upregulation protected ALS against neuronal apoptosis, which is a novel mechanism of the neuroprotective effect of lithium and VPA. This study provides new insights into pathogenesis and treatment of ALS.

show abstract

The amyotrophic lateral sclerosis (ALS) patient perspective on misdiagnosis and its repercussions

Cited by 66 publications

References 6 publications

Factors affecting the diagnostic delay in amyotrophic lateral sclerosis

Factors affecting the diagnostic delay in amyotrophic lateral sclerosis

Characteristics and Prognosis of Oldest Old Subjects with Amyotrophic Lateral Sclerosis

Downregulation of Homer1b/c in SOD1 G93A Models of ALS: A Novel Mechanism of Neuroprotective Effect of Lithium and Valproic Acid

Contact Info

Product

Resources

About