Electrophysiological findings in a Danish family with Machado-Joseph disease

Colding‐Jørgensen, Eskild; Sørensen, Sven Asger; Hasholt, Lis; Lauritzen, Martin

doi:10.1002/(sici)1097-4598(199606)19:6<743::aid-mus9>3.0.co;2-a

Cited by 16 publications

(3 citation statements)

References 29 publications

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“…Fasciculations are typical manifestations in motor neuron disease and have been previously reported in some families with MJD. 8,23 However, data on the prevalence and distribution are scarcely available. In our cohort, clinically visible fasciculations were identified in 15 of 50 MJD patients and in 19 of 20 patients with ALS.…”

Section: Commentmentioning

confidence: 99%

Muscle Excitability Abnormalities in Machado-Joseph Disease

França

D’Abreu²,

Nucci³

et al. 2008

Arch Neurol

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To estimate the frequency of and to characterize muscle excitability abnormalities in Machado-Joseph disease (MJD).Design: Machado-Joseph disease is a common autosomal dominant cerebellar ataxia caused by an unstable CAG trinucleotide repeat expansion. Muscle cramps and fasciculations are frequent and sometimes disabling manifestations. However, their frequency and pathophysiological mechanisms remain largely unknown. Symptomatic patients with MJD (hereinafter MJD patients) with molecular confirmation were assessed prospectively. A standard questionnaire addressing clinical features of muscle cramps and fasciculations was used. The Cramps Disability Scale was used to quantify crampsrelated disability. Patients underwent neurophysiological testing with routine techniques. F waves of the right median nerves were obtained, and persistence indexes were calculated. Four muscles (deltoid, first dorsal interossei, tibialis anterior, and vastus lateralis) were examined by needle electromyography. A semiquantitative scale (from 0 [no activity] to 4 [continuous activity]) was used to determine the frequency of rest fasciculations in each muscle.Results: Fifty MJD patients (29 men) were included in the study. Their mean age at examination was 46.3 years, their mean age at onset of the disease was 35 years, and the mean duration of disease was 11.2 years. Abnormal CAG n varied from 59 to 75 repeats. Forty-one patients presented with muscle cramps; in 10, this was their first symptom. The frequency of cramps varied between 1 and 90 episodes a week. For 15 patients, cramps were the chief complaint, frequently disturbing sleep or work (Cramps Disability Scale score, 2 or 3). Lower limbs were affected in 37 individuals, but unusual regions, such as the face and abdominal muscles, were also involved. Fasciculations were found in 25 individuals; in 8 patients, they included facial muscles. However, fasciculations were not a significant complaint for any of these patients. The clinical and neurophysiological profile of MJD patients with and without cramps was not significantly different. However, MJD patients with fasciculations had more severe damage to their peripheral nerves.Conclusions: Muscle excitability abnormalities were found in 41 MJD patients (82%), and they were the presenting complaint in 10 (20%). They are related to altered excitability of peripheral motor axons, but mechanisms underlying cramps and fasciculations are possibly distinct in MJD patients.

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Section: Commentmentioning

confidence: 99%

Muscle Excitability Abnormalities in Machado-Joseph Disease

França

D’Abreu²,

Nucci³

et al. 2008

Arch Neurol

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“…Peripheral neuropathy (PN) has long been recognized in MJD and is especially frequent among patients with late onset of the disease 5, 6. However, data on the nature of PN in patients with MJD and its course over time are scarce.…”

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confidence: 99%

Prospective study of peripheral neuropathy in Machado–Joseph disease

et al. 2009

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Peripheral neuropathy (PN) has long been recognized in Machado-Joseph disease (MJD), but its natural history is an unsettled issue. Therefore, we prospectively assessed 40 with MJD for 13 months with nerve conduction (NC) studies and the revised total neuropathy score (TNSr) to study the progression of PN. There was no significant change in the TNSr score over the follow-up period. In contrast, the average sural sensory nerve action potential (SNAP) amplitude decreased significantly over the same interval from a mean of 13.2 muV to 9.8 muV (P < 0.001). There was an inverse correlation between the change in the sural SNAP amplitude and the length of the CAG triplet repeat expansion (r = 0.574, P < 0.001). The reduction in the mean sural SNAP amplitude also correlated with progression of ataxia. This indicates that PN progresses faster in individuals with larger (CAG)(n) expansions, and nerve conduction studies may be useful to study disease progression in MJD.

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“…In patients with SCA3, there are 60-85 CAG-repeat units in ATXN3 while only 12-44 in normal subjects 3 . Notably, peripheral nerve involvement stands as a prominent clinical feature in SCA3, with con rmed presence of peripheral neuropathy (PN) among affected individuals [4][5][6][7][8][9] . Some studies have highlighted the signi cance of PN as a contributing factor to disability in SCA3 8, 10,11 .…”

Section: Introductionmentioning

confidence: 99%

Assessment of Peripheral Neuropathy Using Current Perception Threshold Measurement in Patients with Spinocerebellar Ataxia Type 3

Liu,

Lin,

et al. 2024

Preprint

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Background Peripheral neuropathy (PN) identified as a significant contributor to disability in SCA3 patients. Objectives This study seeks to assess the utility of current perception threshold (CPT) measurements in evaluating PN in individuals with SCA3 and aims to identify factors influencing CPT values in SCA3 and ascertain whether these values correlate with the severity of ataxia. Methods Ninety-four patients diagnosed with SCA3 and 44 healthy controls were recruited for this investigation. All participants were performed standard CPT assessments. Comparative analysis was conducted on CPT variables between the groups. Multivariable linear regression models were employed to identify potential risk factors influencing CPT values, and to investigate the association between CPT values and the severity of ataxia in SCA3. Results The case group exhibited significantly higher values across all CPT variables compared to the control group (P < 0.01). Peripheral neuropathy was prevalent among SCA3 patients, with lower limb nerves demonstrating greater susceptibility than upper limb nerves. Increasing age at onset (AAO) (β = 17.652, P = 0.01) and heightened ataxia severity (β = 33.47, P = 0.011) as predictors of poorer CPT values. Gender also emerged as a predictor of CPT values. Furthermore, CPT values (β = 0, P = 0.011) and disease duration (β = 0.105, P = 0.000) were found to influence the severity of ataxia. Conclusion Our findings suggest that the CPT test holds promise for assessing peripheral neuropathy in SCA3 patients and that CPT values may serve as indicators of disease severity in this population.

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Electrophysiological findings in a Danish family with Machado-Joseph disease

Cited by 16 publications

References 29 publications

Muscle Excitability Abnormalities in Machado-Joseph Disease

Muscle Excitability Abnormalities in Machado-Joseph Disease

Prospective study of peripheral neuropathy in Machado–Joseph disease

Assessment of Peripheral Neuropathy Using Current Perception Threshold Measurement in Patients with Spinocerebellar Ataxia Type 3

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