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1.
Dystonia ; 22023.
Article in English | MEDLINE | ID: mdl-37920445

ABSTRACT

According to expert consensus, dystonia can be classified as focal, segmental, multifocal, and generalized, based on the affected body distribution. To provide an empirical and data-driven approach to categorizing these distributions, we used a data-driven clustering approach to compare frequency and co-occurrence rates of non-focal dystonia in pre-defined body regions using the Dystonia Coalition (DC) dataset. We analyzed 1,618 participants with isolated non-focal dystonia from the DC database. The analytic approach included construction of frequency tables, variable-wise analysis using hierarchical clustering and independent component analysis (ICA), and case-wise consensus hierarchical clustering to describe associations and clusters for dystonia affecting any combination of eighteen pre-defined body regions. Variable-wise hierarchical clustering demonstrated closest relationships between bilateral upper legs (distance = 0.40), upper and lower face (distance = 0.45), bilateral hands (distance = 0.53), and bilateral feet (distance = 0.53). ICA demonstrated clear grouping for the a) bilateral hands, b) neck, and c) upper and lower face. Case-wise consensus hierarchical clustering at k = 9 identified 3 major clusters. Major clusters consisted primarily of a) cervical dystonia with nearby regions, b) bilateral hand dystonia, and c) cranial dystonia. Our data-driven approach in a large dataset of isolated non-focal dystonia reinforces common segmental patterns in cranial and cervical regions. We observed unexpectedly strong associations between bilateral upper or lower limbs, which suggests that symmetric multifocal patterns may represent a previously underrecognized dystonia subtype.

2.
Eur J Neurol ; 18(3): 382-6, 2011 Mar.
Article in English | MEDLINE | ID: mdl-20649903

ABSTRACT

BACKGROUND AND PURPOSE: To characterize patients with benign essential blepharospasm (BEB) by diagnosis, environmental risk factors, and family history. METHODS: Two hundred and forty patients with BEB were evaluated through a clinical examination and questionnaire. The questionnaire reviewed personal medical history, demographic factors, risk factors for the development of blepharospasm and family history of dystonia and other neurological conditions. RESULTS: Benign essential blepharospasm was more commonly found in women (2.8:1) and 93% of the patients were Caucasian. Fifty percent had pure BEB, 31% had BEB/Meige's syndrome, and 4% had BEB and eyelid opening apraxia (+/- Meige's syndrome). A minority of patients reported preceding photophobia (25%) or other eye conditions (22%). The majority were non-smokers, had no exposure to anti-emetic or antipsychotic agents, had a normal birth history, and had no history of head trauma. Seventy-two percent did report a stressful event immediately prior to the development of symptoms. Treatments reported included botulinum toxin (BoNT), oral medications, surgical procedures, and acupuncture. Thirty-two percent of patients reported a family history of focal dystonia, and BEB was the most commonly reported. CONCLUSION: This study confirms previous reports of usual age, sex, caffeine and tobacco use, and family history in patients with blepharospasm. New findings include a report on occupation, lower reports of preceding eye conditions and photophobia, and higher reported stressful events. Further, this study shows a change in treatment with an increase in BoNT use and decrease in surgical procedures.


Subject(s)
Blepharospasm , Adult , Age of Onset , Blepharospasm/complications , Dystonic Disorders/complications , Female , Humans , Male , Middle Aged , Pedigree , Risk Factors
3.
J Appl Physiol (1985) ; 107(5): 1513-8, 2009 Nov.
Article in English | MEDLINE | ID: mdl-19713426

ABSTRACT

There is evidence that surround inhibition (SI), a neural mechanism to enhance contrast between signals, may play a role in primary motor cortex during movement initiation, while it is deficient in patients with focal hand dystonia (FHD). To further characterize SI with respect to different force levels, single- and paired-pulse transcranial magnetic stimulation was applied at rest and during index finger movement to evoke potentials in the nonsynergistic, abductor policis muscle. In Experiment 1, in 19 healthy volunteers, SI was tested using single-pulse transcranial magnetic stimulation. Motor-evoked potentials at rest were compared with those during contraction using four different force levels [5, 10, 20, and 40% of maximum force (F(max))]. In Experiments 2 and 3, SI and short intracortical inhibition (SICI) were tested, respectively, in 16 patients with FHD and 20 age-matched controls for the 10% and 20% F(max) levels. SI was most pronounced for 10% F(max) and abolished for the 40% F(max) level in controls, whereas FHD patients had no SI at all. In contrast, a loss of SICI was observed in FHD patients, which was more pronounced for 10% F(max) than for 20% F(max). Our results suggest that SI is involved in the generation of fine finger movements with low-force levels. The greater loss of SICI for the 10% F(max) level in patients with FHD than for the 20% F(max) level indicates that this inhibitory mechanism is more abnormal at lower levels of force.


Subject(s)
Dystonia/physiopathology , Fingers/physiopathology , Motor Cortex/physiopathology , Movement , Muscle Contraction , Muscle, Skeletal/physiopathology , Neural Inhibition , Adult , Aged , Female , Humans , Male , Middle Aged , Motor Skills , Postural Balance , Stress, Mechanical
4.
Eur J Neurosci ; 29(8): 1634-40, 2009 Apr.
Article in English | MEDLINE | ID: mdl-19419426

ABSTRACT

Surround inhibition, a neural mechanism relevant for skilled motor behavior, has been shown to be deficient in the affected primary motor cortex (M1) in patients with focal hand dystonia (FHD). Even in unilateral FHD, however, electrophysiological and neuroimaging studies have provided evidence for bilateral M1 abnormalities. Clinically, the presence of mirror dystonia, dystonic posturing when the opposite hand is moved, also suggests abnormal interhemispheric interaction. To assess whether a loss of inter-hemispheric inhibition (IHI) may contribute to the reduced surround inhibition, IHI towards the affected or dominant M1 was examined in 13 patients with FHD (seven patients with and six patients without mirror dystonia, all affected on the right hand) and 12 right-handed, age-matched healthy controls (CON group). IHI was tested at rest and during three different phases of a right index finger movement in a synergistic, as well as in a neighboring, relaxed muscle. There was a trend for a selective loss of IHI between the homologous surrounding muscles in the phase 50 ms before electromyogram onset in patients with FHD. Post hoc analysis revealed that this effect was due to a loss of IHI in the patients with FHD with mirror dystonia, while patients without mirror dystonia did not show any difference in IHI modulation compared with healthy controls. We conclude that mirror dystonia may be due to impaired IHI towards neighboring muscles before movement onset. However, IHI does not seem to play a major role in the general pathophysiology of FHD.


Subject(s)
Dystonic Disorders/physiopathology , Motor Activity/physiology , Motor Cortex , Neural Inhibition/physiology , Adult , Aged , Electromyography , Fingers/physiopathology , Humans , Male , Middle Aged , Motor Cortex/physiology , Motor Cortex/physiopathology , Neural Pathways/physiology , Psychomotor Performance/physiology , Transcranial Magnetic Stimulation
5.
Clin Neurophysiol ; 118(9): 2072-5, 2007 Sep.
Article in English | MEDLINE | ID: mdl-17652018

ABSTRACT

OBJECTIVE: Repetitive transcranial magnetic stimulation (rTMS) is a potential therapeutic tool to rehabilitate chronic stroke patients. In this study, the safety of high-frequency rTMS in stroke was investigated (Phase I). METHODS: The safety of 20 and 25 Hz rTMS over the motor cortex (MC) of the affected hemisphere, with intensities of 110-130% of the motor threshold (MT), was evaluated using surface electromyography (EMG) of hand and arm muscles. RESULTS: Brief EMG bursts, possibly representing peripheral manifestations of after discharges, and spread of excitation to proximal muscles are considered to be associated with a high risk of seizure occurrence. These events were recorded after the rTMS trains. Neither increased MC excitability nor improved pinch force dynamometry was found after rTMS. CONCLUSIONS: Stimulation parameters for rTMS, which are safe for healthy volunteers, may lead to a higher risk for seizure occurrence in chronic stroke patients. SIGNIFICANCE: rTMS at rates of 20 and 25 Hz using above threshold stimulation potentially increases the risk of seizures in patients with chronic stroke.


Subject(s)
Stroke Rehabilitation , Transcranial Magnetic Stimulation/adverse effects , Adult , Aged , Arm , Chronic Disease , Electromyography , Evoked Potentials, Motor , Female , Hand , Humans , Male , Middle Aged , Motor Cortex/physiopathology , Muscle Strength Dynamometer , Muscle, Skeletal/physiopathology , Risk Assessment , Seizures/etiology , Stroke/physiopathology
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