Chronic pain in Machado-Joseph disease: a frequent and disabling symptom

ArticleinJAMA Neurology 64(12):1767-70 · January 2008with38 Reads
DOI: 10.1001/archneur.64.12.1767 · Source: PubMed
Abstract
Machado-Joseph disease (MJD) is one of the most common forms of neurodegenerative ataxia characterized by remarkable phenotypic heterogeneity. Although patients frequently report pain, systematic evaluation of this clinical feature is lacking. To compare the frequency of chronic pain among patients with genetically confirmed MJD, an age- and sex-matched healthy control group, and a disease control group of patients with amyotrophic lateral sclerosis (ALS). We included 70 patients with MJD, 20 patients with ALS, and 70 control subjects from 2 clinical centers. All individuals underwent assessment with a standardized pain questionnaire. In addition, we used a visual analog scale to quantify pain intensity. Thirty-three patients with MJD (47%), 3 patients with ALS (15%), and 6 controls (9%) reported chronic pain. Lower back pain preceded ataxia in 6 patients with MJD. Twenty-nine patients with MJD had daily pain, which was continuous in 23. The mean visual analog scale score was 6.1 in patients with MJD. Pain was musculoskeletal in 26 patients with MJD, dystonic in 2, neuropathic in 2, and mixed in 3. Typically, pain was lumbar (n = 17) or in the lower limbs (n = 15). We did not find significant differences regarding duration of disease, sex, or severity of ataxia among patients with MJD with and without chronic pain. Expanded (CAG)(n) tandem repeats were longer in patients with MJD who experienced chronic pain (67.3 vs 65.2; P = .04). In our series, pain was significantly more frequent in patients with MJD than in controls. Chronic pain was a frequent and often disabling complaint among patients with MJD. The lower back was the most frequently reported location of pain in patients with MJD.
    • "Fatigue was clinically meaningful in 30% of patients, which is similar to previous reports in inherited ataxias567. Fatigue was associated with depressive symptoms , whereas disease severity fell short of reaching statistical significance (P = 0.07) possibly because of our sample size. "
    [Show abstract] [Hide abstract] ABSTRACT: Non-motor manifestations are frequently overlooked in degenerative disorders and little is known about their frequency and clinical relevance in SPG4 hereditary spastic paraplegia (SPG4-HSP). Thirty patients with SPG4-HSP and 30 healthy controls answered the Modified Fatigue Impact Scale, Epworth Sleepiness Scale, Brief Pain Inventory and Beck Depression Inventory. Student's t test was used to compare groups and linear regression was used to assess correlations. Patients had higher fatigue scores than controls (31.0 ± 16.5 vs. 14.5 ± 16.0, P = 0.002) as well as pain (3.4 ± 2.7 vs. 1.0 ± 1.6, P = 0.001) and depression (12.7 ± 8.9 vs. 4.4 ± 3.8, P < 0.001, respectively). Fatigue was associated with depression and possibly with disease severity (P = 0.008 and 0.07, respectively). Fatigue, pain and depression are frequent and often severe manifestations in patients with SPG4-HSP.
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    • "Amyotrophic lateral sclerosis (ALS) is a chronic, progressive, and ultimately fatal neurodegenerative disease of motor neurons in the brain and spinal cord [182]. Prevalence of chronic pain (especially located at the arms level) in ALS is estimated around 15–20% [183, 184]. Increased permeability of the BSCB has been implicated in the pathogenesis of ALS [185]. "
    [Show abstract] [Hide abstract] ABSTRACT: Chronic pain is a debilitating condition with major socioeconomic impact, whose neurobiological basis is still not clear. An involvement of the neurovascular unit (NVU) has been recently proposed. In particular, the blood-brain barrier (BBB) and blood-spinal cord barrier (BSCB), two NVU key players, may be affected during the development of chronic pain; in particular, transient permeabilization of the barrier is suggested by several inflammatory- and nerve-injury-based pain models, and we argue that the clarification of molecular BBB/BSCB permeabilization events will shed new light in understanding chronic pain mechanisms. Possible biases in experiments supporting this theory and its translational potentials are discussed. Moving beyond an exclusive focus on the role of the endothelium, we propose that our understanding of the mechanisms subserving chronic pain will benefit from the extension of research efforts to the NVU as a whole. In this view, the available evidence on the interaction between analgesic drugs and the NVU is here reviewed. Chronic pain comorbidities, such as neuroinflammatory and neurodegenerative diseases, are also discussed in view of NVU changes, together with innovative pharmacological solutions targeting NVU components in chronic pain treatment.
    Full-text · Article · May 2013
    • "Chronic pain is common in neuromuscular diseases, including amyotrophic lateral sclerosis (Wijesekera and Leigh, 2009), where the prevalence is 15–20% (Franca et al., 2007). In a small case series of amyotrophic lateral sclerosis, pain was the first symptom manifested in 420% of patients (de Castro-Costa et al., 1999), with the arms as the primary affected region. "
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