Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 174
Filtrar
Filtros adicionais











Intervalo de ano
1.
J Neuropsychiatry Clin Neurosci ; : appineuropsych19030058, 2019 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-31466517

RESUMO

OBJECTIVE: Whereas functional symptoms are common in Parkinson's disease (PD), a parkinsonian syndrome may occasionally reflect a pure functional disorder (also named functional parkinsonism [FP]). This review aimed to decipher these entities to clarify the link between functional manifestations and PD. METHODS: Following the PRISMA guidelines, the authors performed a systematic literature search of the PubMed and Science Direct databases for the period 1988 to December 2018 to identify studies of patients with either FP or PD associated with functional neurological symptoms. RESULTS: From the 844 articles screened, 22 were retained, including 12 studies of functional neurological symptoms in PD and 16 studies of FP. The studies of functional symptoms in PD included 121 patients-57% were women, and the mean age was 61.3 years. Psychiatric history (mostly depression) and exposure to triggering stressors were frequent: 60% and 82.5%, respectively. The most common symptom was tremor (33.8%), most often located on the side most affected by PD (50%). Studies of FP included a total of 120 patients-62% were women, and the mean age was 50.7 years. The first FP symptoms appeared on average 5 years before diagnosis, with an abrupt onset in half the cases; 67.6% had a psychiatric history, and 46.8% were exposed to triggering stressors, such as physical injury, stress at work, or loss of family or friends. CONCLUSIONS: Findings suggest a possible relationship between PD and FP. Clinicians should keep in mind the possibility of functional symptoms in PD patients.

2.
J Clin Sleep Med ; 15(7): 1021-1029, 2019 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-31383240

RESUMO

STUDY OBJECTIVES: ADCY5 mutations cause early-onset hyperkinetic movement disorders comprising diurnal and nocturnal paroxysmal dyskinesia, and patient-reported sleep fragmentation. We aimed to characterize all movements occurring during sleep and in the transition from sleep to awakening, to ascertain if there is a primary sleep disorder, or if the sleep disturbance is rather a consequence of the dyskinesia. METHODS: Using video polysomnography, we evaluated the nocturnal motor events and abnormal movements in 7 patients with ADCY5-related dyskinesia and compared their sleep measures with those of 14 age- and sex-matched healthy controls. RESULTS: We observed an increased occurrence of abnormal movements during wake periods compared to sleep in patients with ADCY5-related dyskinesia. While asleep, abnormal movements occurred more frequently during stage N2 and REM sleep, in contrast with stage N3 sleep. Abnormal movements were also more frequent during morning awakenings compared to wake periods before falling asleep. The pattern of the nocturnal abnormal movements mirrored those observed during waking hours. Compared to controls, patients with ADCY5-related dyskinesia had lower sleep efficiencies due to prolonged awakenings secondary to the abnormal movements, but no other differences in sleep measures. Notably, sleep onset latency was short and devoid of violent abnormal movements. CONCLUSIONS: In this series of patients with ADCY5-related dyskinesia, nocturnal paroxysmal dyskinesia were not associated with drowsiness or delayed sleep onset, but emerged during nighttime awakenings with subsequent delayed sleep, whereas sleep architecture was normal.

3.
Neuropediatrics ; 50(5): 308-312, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31226716

RESUMO

Mutations that disrupt the TBC1D24 presynaptic protein have been implicated in various neurological disorders including epilepsy, chronic encephalopathy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome, nonsyndromic hearing loss, and myoclonus. We present the case of a 22-month-old male with infantile-onset paroxysmal episodes of facial and limb myoclonus. The episodes were linked to biallelic variants in exon 2 of the TBC1D24 gene that lead to amino acid changes (c.304C >T/p.Pro102Ser and c.410T > C/p.Val137Ala), each variant being inherited from a parent. Follow-up imaging in adolescence revealed widened right cerebellar sulci. We discuss the evolving landscape of TBC1D24 associated phenotypes; this case adds to a growing body of evidence linking this gene to movement disorders in children.

6.
Brain ; 142(6): 1573-1586, 2019 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-31009047

RESUMO

Primary familial brain calcification (PFBC) is a rare neurogenetic disorder with diverse neuropsychiatric expression. Mutations in four genes cause autosomal dominant PFBC: SLC20A2, XPR1, PDGFB and PDGFRB. Recently, biallelic mutations in the MYORG gene have been reported to cause PFBC with an autosomal recessive pattern of inheritance. We screened MYORG in 29 unrelated probands negatively screened for the autosomal dominant PFBC genes and identified 11 families with a biallelic rare or novel predicted damaging variant. We studied the clinical and radiological features of 16 patients of these 11 families and compared them to that of 102 autosomal dominant PFBC patients carrying a mutation in one of the four known autosomal dominant PFBC genes. We found that MYORG patients exhibited a high clinical penetrance with a median age of onset of 52 years (range: 21-62) with motor impairment at the forefront. In particular, dysarthria was the presenting sign in 11/16 patients. In contrast to patients with autosomal dominant PFBC, 12/15 (80%) symptomatic patients eventually presented at least four of the following five symptoms: dysarthria, cerebellar syndrome, gait disorder of any origin, akinetic-hypertonic syndrome and pyramidal signs. In addition to the most severe clinical pattern, MYORG patients exhibited the most severe pattern of calcifications as compared to the patients from the four autosomal dominant PFBC gene categories. Strikingly, 12/15 presented with brainstem calcifications in addition to extensive calcifications in other brain areas (lenticular nuclei, thalamus, cerebellar hemispheres, vermis, ±cortex). Among them, eight patients exhibited pontine calcifications, which were observed in none of the autosomal dominant PFBC patients and hence appeared to be highly specific. Finally, all patients exhibited cerebellar atrophy with diverse degrees of severity on CT scans. We confirmed the existence of cerebellar atrophy by performing MRI voxel-based morphometry analyses of MYORG patients with autosomal dominant PFBC mutation carriers as a comparison group. Of note, in three families, the father carried small pallido-dentate calcifications while carrying the mutation at the heterozygous state, suggesting a putative phenotypic expression in some heterozygous carriers. In conclusion, we confirm that MYORG is a novel major PFBC causative gene and that the phenotype associated with such mutations may be recognized based on pedigree, clinical and radiological features.

7.
Neurology ; 92(21): e2406-e2420, 2019 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-31028126

RESUMO

OBJECTIVE: To characterize the full spectrum, relative frequency, and prognosis of the neurologic manifestations in Zika virus (ZIKV) postnatal infection. METHODS: We conducted an observational study in consecutive ZIKV-infected patients presenting with neurologic manifestations during the French West Indies 2016 outbreak. RESULTS: Eighty-seven patients, including 6 children, were enrolled. Ninety-five percent of all cases required hospitalization. Guillain-Barré syndrome was the most frequent manifestation (46.0%) followed by encephalitis or encephalomyelitis (20.7%), isolated single or multiple cranial nerve palsies (9.2%), other peripheral manifestations (6.9%), and stroke (1.1%). Fourteen patients (16.1%), including one child, developed a mixed disorder involving both the central and peripheral nervous system. Mechanical ventilation was required in 21 cases, all of whom had ZIKV RNA in at least one biological fluid. Two adult patients died due to neuroZika. Clinical follow-up (median 14 months; interquartile range, 13-17 months) was available for 76 patients. Residual disability (modified Rankin Scale score ≥2) was identified in 19 (25.0%) patients; in 6 cases (7.9%), disability was severe (modified Rankin Scale score ≥4). Among patients with ZIKV RNA detected in one biological fluid, the risk of residual disability or death was higher (odds ratio 9.19; confidence interval 1.12-75.22; p = 0.039). CONCLUSIONS: NeuroZika spectrum represents a heterogeneous group of clinical neurologic manifestations. During an outbreak, clinicians should consider neuroZika in patients presenting with cranial nerve palsies and a mixed neurologic disorder. Long-term sequelae are frequent in NeuroZika. ZIKV reverse-transcription PCR status at admission can inform prognosis and should therefore be taken into consideration in the management of hospitalized patients.

10.
Hum Brain Mapp ; 40(7): 2125-2142, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30653778

RESUMO

The execution of coordinated hand movements requires complex interactions between premotor and primary motor areas in the two hemispheres. The supplementary motor area (SMA) is involved in movement preparation and bimanual coordination. How the SMA controls bimanual coordination remains unclear, although there is evidence suggesting that the SMA could modulate interhemispheric interactions. With a delayed-response task, we investigated interhemispheric interactions underlying normal movement preparation and the role of the SMA in these interactions during the delay period of unimanual or bimanual hand movements. We used functional MRI and transcranial magnetic stimulation in 22 healthy volunteers (HVs), and then in two models of SMA dysfunction: (a) in the same group of HVs after transient disruption of the right SMA proper by continuous transcranial magnetic theta-burst stimulation; (b) in a group of 22 patients with congenital mirror movements (CMM), whose inability to produce asymmetric hand movements is associated with SMA dysfunction. In HVs, interhemispheric connectivity during the delay period was modulated according to whether or not hand coordination was required for the forthcoming movement. In HVs following SMA disruption and in CMM patients, interhemispheric connectivity was modified during the delay period and the interhemispheric inhibition was decreased. Using two models of SMA dysfunction, we showed that the SMA modulates interhemispheric interactions during movement preparation. This unveils a new role for the SMA and highlights its importance in coordinated movement preparation.

11.
J Psychosom Res ; 116: 10-16, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30654984

RESUMO

OBJECTIVE: Patients with functional movement disorders (FMD) often report a disability and psychiatric comorbidities. However, few studies have compared these aspects in FMD and in organic movement disorders (OMD). The objectives were to compare QoL and psychiatric comorbidities of FMD and OMD patients. METHODS: Twenty-one and 30 FMD patients were compared to 21 and 30 sex- and age-matched dystonia and Parkinson patients respectively. QoL was assessed using the Parkinson's Disease Summary Index (PDSI). Psychiatric comorbidities were screened with the Mini International Neuropsychiatric Interview, the Hospital Anxiety and Depression Scale and the Composite International Diagnostic Interview questionnaire. RESULTS: QoL was more altered in FMD than in dystonia on PDSI (42.1 vs 25.1; p = .003). No significant difference was observed in QoL in FMD and Parkinson's disease on PDSI (38.3 vs 32.2; p = .61). Moreover, FMD patients were more often unemployed because of their condition than dystonia (61.9% vs 14.3%; p = .01) and Parkinson patients (53.3% vs 13.3%; p = .005). The occurrence of anxiety (p = .58 and > 0.99), depression (p = .77 and 0.77), and traumatic events (p = .58 and 0.75) was not different between groups. FMD patients reported more often sexual abuse than dystonia (28,6% vs 4.8%; p = .13) and Parkinson patients (23.3% vs 0.0%; p = .02). CONCLUSION: FMD patients presented a significant alteration of QoL and no increased psychiatric comorbidities compared to OMD patients. These results highlight the impact of FMD and suggest that neurologists should be as involved in the management of FMD as they are in OMD.

12.
Mov Disord ; 2018 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-30444952

RESUMO

BACKGROUND: Impulse control disorders are frequently associated with dopaminergic therapy in Parkinson's disease. Genetic studies have suggested a high heritability of impulse control disorders in the general population and in PD. The aim of this study was to identify candidate gene variants associated with impulse control disorders and related behaviors in PD. METHODS: We performed a multicenter case-control study in PD patients with (cases) or without impulse control disorders and related behaviors despite significant dopamine agonist exposure of >300 mg levodopa-equivalent daily dose during 12 months (controls). Behavioral disorders were assessed using the Ardouin scale. We investigated 50 variants in 24 candidate genes by a multivariate logistic regression analysis adjusted for sex and age at PD onset. RESULTS: The analysis was performed on 172 cases and 132 controls. Cases were younger (60 ± 8 vs 63 ± 8 years; P < 0.001) and had a higher family history of pathological gambling (12% vs 5%, P = 0.03). No variant was significantly associated with impulse control disorders or related behaviors after correction for multiple testing, although the 2 top variants were close to significant (OPRM1 rs179991, OR, 0.49; 95%CI, 0.32-0.76; P = 0.0013; Bonferroni adjusted P = 0.065; DAT1 40-base pair variable number tandem repeat, OR, 1.82; 95%CI, 1.24-2.68; P = 0.0021; Bonferroni adjusted P = 0.105). CONCLUSIONS: Our results are suggestive of a novel association of the opioid receptor gene OPRM1 with impulse control disorders and related behaviors in PD and confirm a previous association with DAT1. Although replication in independent studies is needed, our results bring potential new insights to the understanding of molecular mechanisms of impulse control disorders. © 2018 International Parkinson and Movement Disorder Society.

13.
J Neurol Sci ; 396: 112-118, 2018 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-30448717

RESUMO

OBJECTIVE: To describe the phenotype and the response to folinic acid supplementation of cerebral folate deficiency (CFD) in adults, a disorder diagnosed on low 5-methyltetrahydro-folate (5MTHF) in cerebrospinal fluid (CSF), which can correspond to a inherited disorder of folate metabolism (IDFM) or to a metabolic consequence of various neurological diseases. METHODS: We conducted a retrospective study on 224 adult patients with neurological symptoms who had a 5MTHF CSF dosage, collecting their neurologic and neuroimaging data. RESULTS: 69 patients had CFD (CSF 5MTHF level < 41 nmol/L), 25 of them had severe CFD (sCFD; ≤25 nmol/L) with adult onset neurological symptoms in 41%. 56% of sCFD patients had an underlying identified neurologic disorder, mainly mitochondrial diseases, hepatic encephalopathy and primary brain calcifications (no identified IDFM), the others were classified as undiagnosed. sCFD patients presented most frequently pyramidal syndrome (75%), movement disorders (56%), cerebellar syndrome (50%) and intellectual disability (46%). MRI findings mostly showed white matter abnormalities (WMA; 32%) and calcifications (12%), and were normal in 23%. The clinico-radiological phenotype of sCFD patients was not clearly different from non CFD patients in terms of manifestations frequency. However, their neurological picture was more complex with a higher number of combined neurological symptoms (4.7±1.6 vs 3.4±1.7, p = .01). In Magnetic Resonance Spectroscopy (MRS), Choline/Creatine (Cho/Cr) ratio was lower in sCFD patients (n = 7) compared to non-CFD patients (n = 73) (p = .005), with good sensitivity (71%) and excellent specificity (92%). Among twenty-one CFD patients treated with folinic acid, nine had a sustained improvement, all with sCFD but one (50% of sCFD patients improved). In two undiagnosed patients with extremely low 5MTHF CSF values, MRI WMA and low Cho/Cr ratios, folinic acid treatment leaded to a dramatic clinical and radiological improvement. CONCLUSION: CSF 5MTHF dosage should be considered in patients with mitochondrial diseases, primary brain calcifications and unexplained complex neurological disorders especially if associated with WMA, since folinic acid supplementation in patients with sCFD is frequently efficient.

14.
Orphanet J Rare Dis ; 13(1): 175, 2018 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-30285904

RESUMO

BACKGROUND: Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the effect of miglustat treatment are described in the largest cohort of patients with adolescent/adult-onset NP-C studied to date. METHODS: Observational study based on clinical chart data from adult patients with NP-C (> 18 year old) diagnosed in France between 1990 and 2015. Retrospective data from patients at diagnosis, onset of miglustat therapy (if applicable), and last follow up were analysed. RESULTS: In France, patients with an adolescent-adult neurological form constituted approximately 25% of all NP-C cases diagnosed during the study period. Forty-seven patients (46 with NP-C1 and one with NP-C2; 53% female) were included. Mean ± SD (range) ages at neurological onset and diagnosis were 23.9 ± 12.5 (8-56) years and 34 ± 13.5 (15-65) years, respectively. At presentation, patients mainly had 1) impaired gait due to cerebellar ataxia and/or dystonia, 2) and/or cognitive/behavioural manifestations, 3) and/or psychotic signs. Initially, almost half of patients had only one of the above three neuro-psychiatric manifestations. Vertical supranuclear gaze palsy, usually occurring without patient complaint, was only detected on careful clinical examination and was recorded in most patients (93%) at the time of diagnosis, several years after neurological onset. Thirty-seven patients (79%) received miglustat, among whom seventeen (46%) continued beyond 2 years (at last follow up) to a maximum of 9.8 years. Eight patients (22%) discontinued treatment early due to side effects (n = 3) or perceived lack of efficacy (n = 5).Miglustat treatment duration correlated significantly with reduced neurological worsening (p < 0.001). Treatment for≥2 years was associated with improved patient survival (p = 0.029). Good responses to miglustat were associated with less severe neurological disability at the start of miglustat treatment (p = 0.02). CONCLUSION: The proportion of adolescent/adult-onset NP-C cases diagnosed in France increased 2.5-fold since 2009 compared with the 2000-2008 period due to improved awareness. Adolescent/adult-onset NP-C frequently presented initially with a non-specific isolated neuro-psychiatric manifestation (motor, cognitive or psychotic). Patients with less severe neurological disability responded better to miglustat therapy.

15.
Mov Disord ; 33(11): 1700-1711, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30338868

RESUMO

Whipple's disease, affecting the CNS, can cause a wide variety of symptoms. Movement disorders are very prevalent, and some are pathognomonic of the disease. This systematic review analyzed all published cases of movement disorders because of CNS Whipple's disease, providing detailed information on clinical and associated features. We have also attempted to address sources of confusion in the literature, particularly related to differing uses of the terminology of movement disorder. This comprehensive overview of Whipple's disease-induced movement disorders aims to aid neurologists in recognizing this very rare disorder and successfully reaching a laboratory-confirmed diagnosis in order to initiate appropriate therapy. © 2018 International Parkinson and Movement Disorder Society.

16.
Neurology ; 91(21): e2020-e2026, 2018 Nov 20.
Artigo em Inglês | MEDLINE | ID: mdl-30341158

RESUMO

OBJECTIVE: To determine predictors of alcohol responsiveness in a large cohort of patients with dystonia. METHODS: A total of 2,159 participants with dystonia were prospectively enrolled in the cross-sectional Dystonia Coalition multicenter study. Patients with secondary, combined, or confirmed genetic dystonia (total n = 164) or unknown alcohol responsiveness (n = 737) were excluded. Patients answered a standardized questionnaire and were clinically examined using a standardized video protocol and the Burke-Fahn-Marsden Dystonia Rating Scale. Alcohol responsiveness was determined by patients' self-report. RESULTS: A total of 1,258 patients with isolated dystonia (mean age: 59.5 ± 12.2 years; 898 women) met the inclusion criteria; 369 patients (29.3%) reported improvement of dystonia after alcohol consumption. Alcohol responsiveness was not related to sex (p = 0.742), age (p = 0.715), or severity of dystonia (p = 0.623). Age at onset was lower in patients who responded to alcohol (p < 0.001). Alcohol responsiveness differed across dystonia subgroups (multifocal/generalized > segmental [p = 0.014]; cervical and laryngeal > cranial and limb [p < 0.001]) and was related to a positive family history of movement disorders (p = 0.001), and presence of tremor (p < 0.001). CONCLUSION: The association of alcohol responsiveness with a positive family history for movement disorders, generalized dystonia, and an earlier age at onset suggests that patients with dystonia who have an underlying genetic contribution may be more likely to respond beneficially to alcohol. The fact that dystonic tremor may respond to alcohol is in keeping with the observation that the intake of GABAergic drugs may have a beneficial effect in a proportion of patients.

17.
J Neurol Sci ; 395: 77-83, 2018 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-30296734

RESUMO

BACKGROUND: "JUMP" is a multidisciplinary program based at the Pitie-Salpêtrière Hospital Paris that transitions young adults with chronic neurological conditions from paediatric to adult healthcare. Transitional care programs have been shown to improve medical, educational and psychosocial outcomes for adolescent patients. METHODS: Demographic details and health-related variables of all patients referred to the JUMP program were collected. Satisfaction outcome measures were the 18-item On Your Own Feet Transfer Experience Scale (OYOF-TES) and a visual analogue scale, which assessed overall satisfaction with the transfer process. Scales were sent to JUMP patients attending the JUMP day hospital (n = 94) and their parents (n = 94). RESULTS: Since its inception, 111 patients have been seen in the JUMP program. Nine neurological clinical syndromes and four main underlying etiologies were identified. Approximately half of all questionnaires and scales (86/188) sent to patients and parents were returned. Eighty-nine percent of patients and 91% of parents were very satisfied with their transfer experience. There was a strong, positive correlation between patient and parent satisfaction [r = 0.910; p < 0.0001]. CONCLUSION: The JUMP program which is rooted in a multidisciplinary and coordinated approach to transitional care encompasses a broad range of neuro-pathologies. Overall, satisfaction levels were high amongst patients within the program, and their parents. The key role played by the coordination nurse specialists throughout the transfer process is a likely key determinant in satisfaction levels.

18.
Mov Disord ; 2018 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-30302819

RESUMO

BACKGROUND: Good short-term results of pallidal deep brain stimulation have been reported in myoclonus-dystonia. Efficacy and safety in the long term remain to be established. In addition, the actual impact of DBS treatment on social inclusion is unknown. The objective of this study was to assess the long-term clinical outcome, quality of life, and social adjustment of GPi-DBS in patients with ε-sarcoglycan (DYT11)-positive myoclonus-dystonia. METHODS: Consecutive myoclonus-dystonia patients with ε-sarcoglycan mutations who underwent GPi-DBS were evaluated at least 5 years postoperatively. Motor symptoms were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale including the Disability Scale, a composite score combining the rest and action parts of the Unified Myoclonus Rating Scale and modified Abnormal Involuntary Movement Scale. Standardized video-protocols were assessed by a blinded and external movement disorder specialist. Social adjustment, cognition, and mood were evaluated. RESULTS: Nine patients (5 women) with long-term GPi-DBS (8.7 ± 3.1 years) were included. There was significant improvement in the composite myoclonus score (94.1% ± 4% improvement; P = 0.008). Dystonia severity was also markedly improved (71.4% ± 28.33% improvement; P = 0.008) as well as motor disability (88.3% ± 20% improvement; P = 0.008) and abnormal involuntary movement score (71.1% ± 15.0% improvement; P = 0.008). No patients experienced postoperative speech or gait problems or any permanent adverse effects. Eight of the 9 patients had fully enhanced social adjustment and personal achievement, with little or no mood or behavioral disorders. CONCLUSIONS: GPi-DBS seems to be a safe and efficacious treatment for medically refractory ɛ-sarcoglycan myoclonus-dystonia, with sustained motor benefit, good quality of life, and social adjustment in long-term follow-up. © 2018 International Parkinson and Movement Disorder Society.

19.
Rech Soins Infirm ; (133): 93-98, 2018 06.
Artigo em Francês | MEDLINE | ID: mdl-30066513

RESUMO

Introduction / Context: The transition of young patients from pediatric to adult departments is a critical period with high risks of interruption of the care circuits, thus justifying the implementation of transition programs. This period is also difficult for caregivers, more particularly the main family caregiver. This study addresses the impact of this transition upon the family caregivers of young adults suffering from chronic neurological diseases. OBJECTIVES: To identify the main family caregivers, their profile, and to evaluate their implication and feelings in terms of burden at the time of the transition. METHODS: A questionnaire, which included a modified version of the Zarit Burden Interview, was sent to the families of young patients who had recently moved to the adult neurology department. RESULTS: Twenty-nine of the forty families contacted replied: the main caregiver is usually the mother (86.6%), the mean age is 51.8, 65% had kept their professional occupation, and 21% had quit. The burden scale showed that 65.5% felt little or no burden. DISCUSSION AND CONCLUSION: This limited feeling of burden may be explained by the fact that the majority of patients did not have a motor/intellectual disability. The burden scale we used was originally created for caregivers of elderly patients (often their children), and may not be suitable for assessing children's parents. More specific scales should be considered.

20.
Curr Opin Neurol ; 31(4): 484-490, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29952836

RESUMO

PURPOSE OF REVIEW: The present study will highlight recent advances in the field of myoclonus-dystonia with a focus on clinical aspects, pathogenesis, and treatment. We will also discuss genetics, classification issues, and diagnostic criteria. RECENT FINDINGS: Myoclonus-dystonia is a clinical syndrome corresponding to the phenotype linked to SGCE, the main causative gene. Childhood-onset myoclonus that predominates over dystonia with prominent upper body involvement, an absence of truncal dystonia, associated anxiety or compulsivity, and a positive family history are helpful diagnostic clues. Recent studies demonstrated that zonisamide is an interesting therapeutic option in myoclonus-dystonia, and that bilateral pallidal stimulation has major and lasting therapeutic effects. Accumulating evidence suggests that an alteration in cerebello-thalamic pathway function may play a prominent role and that this is possibly related to a GABAergic deficit reflecting Purkinje cell dysfunction. Impaired striatal plasticity and disturbed serotonin homeostasis may also be implicated. Newly available cellular and rodent models may further assist in investigating the pathogenesis of this disorder. SUMMARY: Comprehensive analysis of the phenotype and precise classification are important in patients with myoclonus and dystonia to identify homogeneous groups of patients. This is critical to guide tailored therapeutic strategies and promote effective research.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA