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1.
Cerebellum ; 22(2): 183-191, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-35143029

RESUMEN

The etiology may not be determined in patients with ataxia despite detailed evaluations. The aim of this study was to investigate the clinical and laboratory characteristics of a large cohort of patients with adult-onset ataxia of different etiologies, particularly, undetermined etiologies despite extensive clinical, genetic, laboratory, electrophysiological, and imaging investigations. The medical records of all patients diagnosed with ataxia of subacute-chronic onset between January 2011 and March 2021 were reviewed retrospectively. The records of patients with symptom onset after 16 years of age were included in the study. In all patients, clinical and demographic findings were noted. Etiologies were classified as acquired, hereditary, degenerative (multiple system atrophy-cerebellar, MSA-C), functional, and undetermined. During the study period, we determined 74 patients with ataxia and 59 (35 males) patients met the study criteria. The age range was 22-87 years. The etiologies were hereditary (n = 19), acquired (n = 14), MSA-C (n = 9), functional (n = 2), and undetermined (n = 15). The patients with hereditary etiologies and undetermined causes were significantly younger at admission and at symptom onset (p = 0.001 and p = 0.000). There was a significant delay until diagnosis in patients with hereditary etiologies compared to other etiologies. In acquired etiologies, axial findings (71.4%) were more prominent whereas extremity and axial findings were more common in patients with hereditary etiologies (83.3%, p = 0.030). There were systemic and radiological indicators such as hearing loss, juvenile cataract, or dentate hyperintensity in certain disorders. Hereditary etiologies are as common as acquired or degenerative etiologies in adults. However, they have an earlier onset and delayed diagnosis. Therefore, we should recognize the extracerebellar neurological, systemic, and neuroimaging findings.


Asunto(s)
Ataxia Cerebelosa , Atrofia de Múltiples Sistemas , Adulto , Masculino , Humanos , Adulto Joven , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Estudios Retrospectivos , Turquía , Ataxia Cerebelosa/complicaciones , Ataxia/genética , Atrofia de Múltiples Sistemas/complicaciones
2.
Int J Psychiatry Med ; 58(4): 403-410, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36853927

RESUMEN

OBJECTIVE: SARS-CoV-2 infection commonly affects both the central and peripheral nervous systems, resulting in a variety of neurological and psychiatric symptoms. Whereas the effects of SARS-CoV-2 on neuronal structures in the short and long-term are still controversial, neurological involvement secondary to SARS-CoV- 2 is heterogeneous in terms of clinical presentation, treatment response, and prognosis. METHOD: A case of autoimmune encephalitis developing after SARS-CoV-2 is described in this article. RESULTS: The patient was admitted to the clinic with classical signs of catatonia and encephalopathy. The emergence of neuropsychiatric problems after the relief of SARS-CoV-2 symptoms suggests that symptoms were primarily related to immune processes. This patient demonstrated a good clinical response to symptomatic catatonia treatment and immune-modulatory agents and recovered both physically and cognitively without sequelae. CONCLUSION: SARS-CoV-2 infection may involve encephalitic involvement and psychological symptoms (including catatonia) after the infection by triggering autoimmune pathways.


Asunto(s)
Enfermedades Autoinmunes del Sistema Nervioso , COVID-19 , Catatonia , Humanos , COVID-19/complicaciones , Catatonia/etiología , Catatonia/complicaciones , SARS-CoV-2 , Enfermedades Autoinmunes del Sistema Nervioso/complicaciones , Enfermedades Autoinmunes del Sistema Nervioso/diagnóstico , Enfermedades Autoinmunes del Sistema Nervioso/terapia
3.
Neurol Sci ; 43(12): 6947-6950, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36112278

RESUMEN

BACKGROUND: ADCY5 mutation is a clinical condition that has been described in limited numbers in the literature, causing hyperkinetic movement disorder, and may be sporadic or familial. PATIENT DESCRIPTION: This report looks at the involuntary movements that started early in life in a 5-year-old girl. RESULTS: Patient's electroensephalogram and cranial magnetic resonance imaging were normal. Metabolic scans were normal. ADCY5 mutation was found in whole exome sequencing of the patient who did not have a similar family history. CONCLUSION: Some features such as the worsening of involuntary movements after sleep and the presence of hypotonia in our patient suggested this mutation. Our patient is resistant to more than one drug. With this report, we aimed to pave the way for better understanding of the gene and the discovery of different treatment options.


Asunto(s)
Adenilil Ciclasas , Discinesias , Humanos , Femenino , Preescolar , Adenilil Ciclasas/genética , Mutación/genética , Hipotonía Muscular , Sueño
4.
Int J Neurosci ; 132(5): 439-449, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-32938288

RESUMEN

PURPOSE/AIM OF THE STUDY: Parkinson's disease (PD) is the second most common neurodegenerative disorder. Vitamin D deficiency is suggested to be related to PD. A genome-wide association study indicated that genes involved in vitamin D metabolism affect vitamin D levels. Among these genes, single nucleotide polymorphisms (SNPs) of the vitamin D receptor (VDR) and vitamin D binding protein (VDBP/GC) genes have also been demonstrated to be associated with PD risk. Our aim was to investigate the relevance of SNPs within the 7-dehydrocholesterol reductase/nicotinamide adenine dinucleotide synthetase 1 (DHCR7/NADSYN1) locus and vitamin D 25-hydroxylase (CYP2R1) gene, which encode important enzymes that play a role in the vitamin D synthesis pathway, with PD and its clinical features. MATERIALS AND METHODS: Genotypes of 382 PD patients and 240 cognitively healthy individuals were evaluated by a LightSNiP assay for a total of 10 SNPs within the DHCR7/NADSYN1 locus and CYP2R1 gene. RESULTS: There were no significant differences in the allele and genotype distributions of any of the SNPs between any patient groups and healthy subjects. However, our results indicated that all of the SNPs within the DHCR7/NADSYN1 locus and CYP2R1 gene, except rs1993116, were associated with clinical motor features of PD including initial predominant symptom, freezing of gait (FoG) and falls as well as disease stage and duration of the disease. CONCLUSIONS: In conclusion, genetic variants of the DHCR7/NADSYN1 locus and the CYP2R1 gene might be related to the inefficient utilization of vitamin D independent from vitamin D levels, and it might result in differences in the clinical features of PD patients.


Asunto(s)
Ligasas de Carbono-Nitrógeno con Glutamina como Donante de Amida-N , Colestanotriol 26-Monooxigenasa , Familia 2 del Citocromo P450 , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH , Enfermedad de Parkinson , Vitamina D , Ligasas de Carbono-Nitrógeno con Glutamina como Donante de Amida-N/genética , Colestanotriol 26-Monooxigenasa/genética , Familia 2 del Citocromo P450/genética , Trastornos Neurológicos de la Marcha/genética , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Humanos , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH/genética , Enfermedad de Parkinson/genética , Polimorfismo de Nucleótido Simple , Vitamina D/metabolismo , Deficiencia de Vitamina D
5.
Sensors (Basel) ; 22(5)2022 Feb 25.
Artículo en Inglés | MEDLINE | ID: mdl-35270972

RESUMEN

The Unified Parkinson's Disease Rating Scale (UPDRS) is a subjective Parkinson's Disease (PD) physician scoring/monitoring system. To date, there is no single upper limb wearable/non-contact system that can be used objectively to assess all UPDRS-III motor system subgroups (i.e., tremor (T), rigidity (R), bradykinesia (B), gait and posture (GP), and bulbar anomalies (BA)). We evaluated the use of a non-contact hand motion tracking system for potential extraction of GP information using forearm pronation-supination (P/S) motion parameters (speed, acceleration, and frequency). Twenty-four patients with idiopathic PD participated, and their UPDRS data were recorded bilaterally by physicians. Pearson's correlation, regression analyses, and Monte Carlo validation was conducted for all combinations of UPDRS subgroups versus motion parameters. In the 262,125 regression models that were trained and tested, the models within 1% of the lowest error showed that the frequency of P/S contributes to approximately one third of all models; while speed and acceleration also contribute significantly to the prediction of GP from the left-hand motion of right handed patients. In short, the P/S better indicated GP when performed with the non-dominant hand. There was also a significant negative correlation (with medium to large effect size, range: 0.3-0.58) between the P/S speed and the single BA score for both forearms and combined UPDRS score for the dominant hand. This study highlights the potential use of wearable or non-contact systems for forearm P/S to remotely monitor and predict the GP information in PD.


Asunto(s)
Enfermedad de Parkinson , Marcha , Análisis de la Marcha , Humanos , Enfermedad de Parkinson/diagnóstico , Postura , Pronación , Supinación , Extremidad Superior
6.
Ideggyogy Sz ; 75(9-10): 333-339, 2022 Sep 30.
Artículo en Húngaro | MEDLINE | ID: mdl-36218115

RESUMEN

Background and purpose: Long-latency reflex and mixed nerve silent period responses are electrophysiological methods to study the sensorimotor functions of the central nervous system. Here we aimed to study long-latency reflexes and mixed nerve silent period responses in different types of hypokinetic movement disorders in order to find an electrophysiological landmark to distinguish them. Methods: We included 39 patients with idiopathic Parkinson's disease (IPD), 12 patients with multiple system atrophy (MSA), 10 patients with corticobasal syndrome (CBS), 5 patients with progressive supranuclear palsy (PSP) and 26 healthy participants. We recorded the segmental reflex, the long-latency reflexes and the mixed nerve silent period responses for each participant. Results: C reflex, long-latency reflex-I and long-latency reflex-III responses were not obtained in any patients with PSP. Long-latency reflex amplitude/ F amplitude ratio was significantly lower in patients with IPD and PSP compared to healthy individuals (p=0.036, p=0.006 respectively). The mixed nerve silent period end latencies were significantly longer in IPD, MSA, CBS groups compared to the healthy individuals (p=0.026, p=0.050, p=0.008 respectively). Conclusion: We suggest that recording long-latency reflex, particularly C reflex responses may provide promising results in distinction of CBS and MSA from PSP. Prospective studies with clinical findings and brainstem reflexes may offer more information.


Asunto(s)
Atrofia de Múltiples Sistemas , Enfermedad de Parkinson , Parálisis Supranuclear Progresiva , Diagnóstico Diferencial , Humanos , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/diagnóstico , Estudios Prospectivos , Reflejo , Parálisis Supranuclear Progresiva/diagnóstico
7.
Mov Disord ; 36(7): 1676-1688, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33624863

RESUMEN

BACKGROUND: The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations. OBJECTIVE: To identify the prevalence and genetic structure of hereditary ataxias in the Turkish population. METHODS: Our cohort consisted of 1296 index cases and 324 affected family members. Polymerase chain reaction followed by Sanger sequencing or fragment analysis were performed to screen for the trinucleotide repeat expansions in families with a dominant inheritance pattern, as well as in sporadic cases. The expansion in the frataxin (FXN) gene was tested in all autosomal recessive cases and in sporadic cases with a compatible phenotype. Whole-exome sequencing was applied to 251 probands, selected based on the family history, age of onset, and phenotype. RESULTS: Mutations in known ataxia genes were identified in 30% of 1296 probands. Friedreich's ataxia was found to be the most common recessive ataxia in Turkey, followed by autosomal recessive spastic ataxia of Charlevoix-Saguenay. Spinocerebellar ataxia types 2 and 1 were the most common dominant ataxias. Whole-exome sequencing was performed in 251 probands with an approximate diagnostic yield of 50%. Forty-eight novel variants were found in a plethora of genes, suggesting a high heterogeneity. Variants of unknown significance were discussed in light of clinical data. CONCLUSION: With the large sample size recruited across the country, we consider that our results provide an accurate picture of the frequency of hereditary ataxias in Turkey. © 2021 International Parkinson and Movement Disorder Society.


Asunto(s)
Atrofia Óptica , Ataxias Espinocerebelosas , Degeneraciones Espinocerebelosas , Humanos , Espasticidad Muscular , Turquía/epidemiología
8.
Can J Neurol Sci ; 45(1): 100-103, 2018 01.
Artículo en Inglés | MEDLINE | ID: mdl-29110740

RESUMEN

We report the clinical and electrophysiological findings in seven patients with orthostatic myoclonus (OM) associated with gait initiation failure and falls. OM is one of the causes of unsteadiness of stance and gait, and it may develop as a symptom of neurodegenerative disorders. Both positive myoclonic bursts and negative myoclonus may be seen in electrophysiological recordings, and electrophysiological analysis suggests a subcortical origin for OM.


Asunto(s)
Electromiografía/métodos , Trastornos Neurológicos de la Marcha/diagnóstico , Trastornos Neurológicos de la Marcha/etiología , Mioclonía/complicaciones , Estimulación Acústica , Anciano , Anciano de 80 o más Años , Parpadeo/fisiología , Potenciales Evocados Motores/fisiología , Femenino , Humanos , Masculino , Tiempo de Reacción , Reflejo de Sobresalto/fisiología , Estudios Retrospectivos , Índice de Severidad de la Enfermedad
9.
Neurol Sci ; 38(4): 679-682, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-27990561

RESUMEN

Myoclonus in Parkinson's disease (PD) may be related or unrelated to dopaminergic medication and may share some features of cortical myoclonus. The aim of this study was to analyze clinical and electrophysiological correlates of the dopaminergic treatment unrelated myoclonus in PD patients. We included 17 PD patients with the end-of-dose myoclonus and 16 PD patients without myoclonus between January 2010 and June 2011. Surface electromyography of upper extremity muscles and long latency reflexes (LLRs) were performed. Positive or negative myoclonus with a duration of 35-100 ms was observed. Rest tremor was less frequent in the group with myoclonus. Only one PD patient with myoclonus had C reflex. Mean LLR amplitude was significantly high in PD with myoclonus compared to the group without myoclonus (p = 0.024). Dopaminergic treatment unrelated myoclonus is less related to rest tremor in PD, may be positive or negative, and exhibits similar features to cortical myoclonus.


Asunto(s)
Antiparkinsonianos/uso terapéutico , Dopaminérgicos/uso terapéutico , Mioclonía/tratamiento farmacológico , Enfermedad de Parkinson/tratamiento farmacológico , Temblor/tratamiento farmacológico , Anciano , Electromiografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/efectos de los fármacos , Músculo Esquelético/fisiopatología , Mioclonía/fisiopatología , Enfermedad de Parkinson/fisiopatología , Reflejo/efectos de los fármacos , Reflejo/fisiología , Resultado del Tratamiento , Temblor/fisiopatología , Extremidad Superior/fisiopatología
10.
Neurol Sci ; 38(9): 1683-1689, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28681310

RESUMEN

Akathisia is a sensori-motor phenomenon which is generally encountered as an adverse effect of antidopaminergic medications suggesting involvement of dopaminergic pathways. We recently showed nociceptive flexor reflex was altered in akathisia as compared to restless legs syndrome and therefore, these findings may indicate co-involvement of pathways other than dopaminergic ones. To examine functional status of different pathways, we investigated auditory startle reflex (ASR), startle response to somatosensory input (SSS), and trigemino-cervical reflex (TCR) in a group of patients with akathisia. Consecutive seven patients with drug-induced akathisia and age- and gender-matched healthy subjects were prospectively included in the study. The diagnosis was made by appropriate clinical criteria. Brainstem reflexes, ASR, SSS, and TCR were examined in all participants. The probability, onset latency, amplitude, and duration were measured and compared between groups. The probability and amplitudes of ASRs were significantly increased and durations of ASRs and TCRs were prolonged in the patient group. Latencies of all responses as well as patterns of startle responses were similar between groups. The results reveal hyperactivity of the ASR and TCR in drug-induced akathisia. Hyperactive ASRs and TCRs also confirm suprasegmental hypodopaminergic state in akathisia. Although we keep in mind the confounding effects due to concurrent antidopaminergic treatments and the small sample group, we speculate that hyperactive ASRs and TCRs might be related to deficient control by forebrain and limbic-mainly amygdala-network in patients with drug-induced akathisia.


Asunto(s)
Acatisia Inducida por Medicamentos/fisiopatología , Tronco Encefálico/fisiopatología , Reflejo , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Vías Nerviosas/fisiopatología , Estimulación Física , Estudios Prospectivos , Reflejo/fisiología
11.
Clin Neurol Neurosurg ; 233: 107975, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37734268

RESUMEN

OBJECTIVE: In parkinsonian syndromes, presentations other than current diagnostic criteria are considered atypical findings. Our goal was to identify and describe the frequency and features of uncommon manifestations of atypical parkinsonian syndromes within our group. METHODS: We retrospectively retrieved the medical records of all patients admitted to our clinic with parkinsonism between January 2011 and January 2022. We only included patients with atypical parkinsonian syndromes, in which the diagnosis was based on current clinical criteria. We retrospectively analyzed neurological, psychiatric, radiological, and electrophysiological characteristics. Typical and atypical features were classified according to the current clinical criteria and previous reports. RESULTS: We determined 51 patients with atypical parkinsonian syndromes; 46 were included, whereas five were excluded due to insufficient follow-up. The probable diagnoses were multiple system atrophy (MSA, n = 19), dementia with Lewy bodies (DLB, n = 10), frontotemporal dementia (FTD, n = 10), corticobasal syndrome (CBS, n = 3), progressive supranuclear palsy (PSP, n = 4). The prevalence of atypical findings was similar among different types of atypical parkinsonian syndromes (p = 0.847). Atypical findings were eyelid myoclonus, double vision in MSA; ataxia, myoclonus, and a typical hummingbird sign on MRI in DLB; pyramidal findings and family history in FTD; early onset, family history, and onset with psychiatric findings in PSP-like phenotype. Genetic causes were identified in the FTD-like phenotype with pyramidal findings, whereas symptom onset was early with myoclonus in the PSP-like phenotype. CONCLUSION: Atypical findings such as abnormal saccades, myoclonus, and ataxia may be a part of degenerative syndromes. However, family history, onset at an earlier age, and specific neurological findings suggest genetic syndromes.


Asunto(s)
Demencia Frontotemporal , Atrofia de Múltiples Sistemas , Mioclonía , Trastornos Parkinsonianos , Parálisis Supranuclear Progresiva , Humanos , Demencia Frontotemporal/genética , Mioclonía/diagnóstico , Estudios Retrospectivos , Diagnóstico Diferencial , Trastornos Parkinsonianos/diagnóstico , Trastornos Parkinsonianos/genética , Parálisis Supranuclear Progresiva/diagnóstico , Atrofia de Múltiples Sistemas/diagnóstico , Ataxia
12.
Clin Neurol Neurosurg ; 217: 107244, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35461092

RESUMEN

BACKGROUND AND PURPOSE: Cerebral small vessel disease (CSVD) may present with gradual onset, chronic parkinsonism and/or dementia. In this study, we aimed to identify the prevalence and clinical characteristics of apathy, dementia and parkinsonism in a cohort of patients with CSVD and to determine the neuroimaging features in these patients. METHODS: We included all patients with CSVD, who were admitted to the stroke outpatient clinic between February 2018 and February 2019. All patients were over 18 years of age. Demographic, clinical and neuoimaging findings were noted. Detailed neurological examination and neuropsychiatric assessments were done in each patient. The types and anatomical sites of lesions in neuroimaging were also determined. RESULTS: Among all stroke patients in the study period, CSVD constituted 23.3%. The etiologies were possible arteriosclerotic, amyloid angiopathy and CADASIL in 85.0%, 3.3% and 11.7% of these patients, respectively. The most common clinical feature was apathy followed by dementia, parkinsonism, and parkinsonism plus dementia. In regression analysis, apathy and parkinsonism was associated with lesions in caudate or in other basal ganglia structures whereas lesions of corpus callosum increased the risk of dementia. Hypertension was also associated with the presence of dementia. There was no specific association between the type of lesion in neuroimaging and clinical findings. CONCLUSIONS: The risk of clinical manifestations such as apathy, dementia and parkinsonism is high in CSVD. Involvement of basal ganglia increased the risk of parkinsonism and apathy whereas involvement of corpus callosum increased the risk of dementia. A detailed assessment for apathy is necessary along with parkinsonism and cognitive findings since apathy is the most common finding in CSVD.


Asunto(s)
Enfermedades de los Pequeños Vasos Cerebrales , Demencia , Trastornos Parkinsonianos , Accidente Cerebrovascular , Adolescente , Adulto , Enfermedades de los Pequeños Vasos Cerebrales/complicaciones , Enfermedades de los Pequeños Vasos Cerebrales/diagnóstico por imagen , Enfermedades de los Pequeños Vasos Cerebrales/epidemiología , Demencia/diagnóstico por imagen , Demencia/epidemiología , Demencia/etiología , Humanos , Imagen por Resonancia Magnética/efectos adversos , Neuroimagen , Trastornos Parkinsonianos/complicaciones , Prevalencia , Accidente Cerebrovascular/complicaciones
14.
Neuromolecular Med ; 23(2): 292-304, 2021 06.
Artículo en Inglés | MEDLINE | ID: mdl-33015738

RESUMEN

Parkinson's disease (PD) is a chronic neurodegenerative disease that has relatively slow progression with motor symptoms. Leucine-rich repeat kinase 2 (LRRK2) gene mutations and polymorphisms are suggested to be associated with PD. In this study, we aimed to investigate the association between single-nucleotide polymorphisms (SNPs) of the LRRK2 gene, namely, rs11176013, rs10878371, rs11835105, and PD. Genotypes of 132 PD cases and 133 healthy individuals were determined by qRT-PCR. Haplotype analysis was performed. Additionally, LRRK2 mRNA expression levels were determined in 83 PD cases and 55 healthy subjects. The relationship between LRRK2 mRNA levels, the target SNPs, and clinical data was also investigated. Our results indicated that the "GG" genotype and "G" allele of rs11176013 and the "CC" genotype and "C" allele of rs10878371 were more frequent in cases. The "GCG" haplotype was significantly more frequent in cases. LRRK2 mRNA expression levels in patients were significantly lower than those in healthy individuals. The patients with the "CC" genotype for rs10878371 and the "GG" genotype for rs11176013 had decreased LRRK2 mRNA levels. We found that the rs11176013 "GG" genotype and the rs10878371 "CC" genotype were less frequently seen in cases with akinetic rigid or combined akinetic rigid and tremor-dominant initial symptoms. Consequently, our results demonstrate that the rs11176013 and rs10878371 polymorphisms are associated with PD in a Turkish cohort, and moreover, these results suggest that these polymorphisms may affect the expression of the LRRK2 gene and disease progression and thus play a role in the pathogenesis of PD.


Asunto(s)
Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina/genética , Proteínas del Tejido Nervioso/genética , Enfermedad de Parkinson/genética , Polimorfismo de Nucleótido Simple , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Estudios de Casos y Controles , Progresión de la Enfermedad , Femenino , Trastornos Neurológicos de la Marcha/etiología , Regulación de la Expresión Génica , Genotipo , Haplotipos/genética , Humanos , Hipocinesia/etiología , Proteína 2 Quinasa Serina-Treonina Rica en Repeticiones de Leucina/biosíntesis , Masculino , Persona de Mediana Edad , Proteínas del Tejido Nervioso/biosíntesis , Enfermedad de Parkinson/complicaciones , Enfermedad de Parkinson/metabolismo , ARN Mensajero/biosíntesis , ARN Mensajero/genética , Índice de Severidad de la Enfermedad , Evaluación de Síntomas , Temblor/etiología , Turquía
15.
Front Neurol ; 11: 546123, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33117256

RESUMEN

It has been demonstrated that intrinsic auricular muscles zone stimulation (IAMZS) can improve the motor symptoms of Parkinson's disease (PD) patients who are examined with the Unified Parkinson's Disease Rating Scale (UPDRS) motor scores. In the present pilot study, using motion capture technology, we aimed to investigate the efficacy of IAMZS compared to medication alone or in combination with medication. Ten PD patients (mean age: 54.8 ± 10.1 years) were enrolled. Each participant participated in three different sessions: sole medication, sole stimulation-20 min of IAMZS, and combined IAMZS (20 min) and medication. Each session was performed on different days but at the same time to be aligned with patients' drug intake. Motion capture recording sessions took place at baseline, 20, 40, and 60 min. Statistical analysis was conducted using one-way repeated measures ANOVA. Bonferroni correction was implemented for pairwise comparisons. The sole medication was ineffective to improve gait-related parameters of stride length, stride velocity, stance, swing, and turning speed. In the sole-stimulation group, pace-related gait parameters were significantly increased at 20 and 40 min. These improvements were observed in stride length at 20 (p = 0.0498) and 40 (p = 0.03) min, and also in the normalized stride velocity at 40 min (p-value = 0.02). Stride velocity also tended to be significant at 20 min (p = 0.06) in the sole-stimulation group. Combined IAMZS and medication demonstrated significant improvements in all the time segments for pace-related gait parameters [stride length: 20 min (p = 0.04), 40 min (p = 0.01), and 60 min (p < 0.01); stride velocity: 20 min (p < 0.01), 40 min (p = 0.01), and 60 min (p < 0.01)]. These findings demonstrated the fast action of the IAMZS on PD motor symptoms. Moreover, following the termination of IAMZS, a prolonged improvement in symptoms was observed at 40 min. The combined use of IAMZS with medication showed the most profound improvements. The IAMZS may be particularly useful during medication off periods and may also postpone the long-term side effects of high-dose levodopa. A large scale multicentric trial is required to validate the results obtained from this pilot study. Clinical Trial Registration: www.ClinicalTrials.gov, identifier NCT03907007.

16.
Mov Disord ; 24(5): 759-62, 2009 Apr 15.
Artículo en Inglés | MEDLINE | ID: mdl-19205065

RESUMEN

Patients admitted to movement disorders outpatient unit at a university hospital between January 2002 and June 2007 were screened for psychogenic movement disorders (PMDs). Out of 1,743 patients, 49 patients (2.8%), including four children, were diagnosed to have PMDs. Women to men ratio was 34/15. The mean age and the age-at-onset were 41 +/- 17 years and 36 +/- 15 years in the adult group, and 10 +/- 2 and 9 +/- 2 years in children. Among the whole group, 44% had tremor, 24% dystonia, 12% pure gait disorders, 8% parkinsonism, 6% chorea-ballism, and 4% tic disorder. PMD developed acutely in 85% of patients, and distractibility was observed in 83%. Of the patients, 81% met the criteria for clinically established PMD, whereas 16% for documented and 2% for probable PMD. Although our data was obtained from a different culture, our results showed that hospital-based frequency and phenomenological features between our PMD group and previously reported ones are similar.


Asunto(s)
Trastornos del Movimiento/complicaciones , Trastornos Psicofisiológicos/complicaciones , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/terapia , Escalas de Valoración Psiquiátrica , Trastornos Psicofisiológicos/diagnóstico , Trastornos Psicofisiológicos/terapia , Estudios Retrospectivos , Turquía/epidemiología , Adulto Joven
18.
Parkinsonism Relat Disord ; 49: 22-27, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29326035

RESUMEN

BACKGROUND AND OBJECTIVE: Late-onset myoclonus in the elderly is mainly related to dementia or systemic disease. In this report, we aimed to investigate the clinical and electrophysiological features of patients with late-onset myoclonus. PATIENTS AND METHOD: We retrospectively assessed the medical records of patients who were referred to our electromyography laboratory. From these records, we included all patients who had myoclonus which started after the age of 60 years and in whom it was confirmed by polymyography. Demographic, clinical and electrophysiological findings were retrieved from the medical records. RESULTS: There were 63 patients with myoclonus. Types of myoclonus were spinal segmental (n = 2), cortical (n = 25) and probable cortico-subcortical involving upper extremities (n = 36). The latter two types displayed reflex sensitivity. Four patients (one with multifocal cortical myoclonus and others with probable cortico-subcortical myoclonus) were diagnosed with probable CJD. Other diagnoses were Parkinsons's disease, Parkinson-plus or dementia syndromes, vascular parkinsonism, polyneuropathy, Celiac disease and post-hypoxic encephalopathy. Eleven patients did not have a specific diagnosis. CONCLUSIONS: Myoclonus in our cohort was mostly associated with parkinsonism. Cortical myoclonus is not rare in the elderly age group. Myoclonus in polyneuropathy is irregular, tremor-like with electrophysiological characteristics similar to the cortical subtype.


Asunto(s)
Tronco Encefálico/fisiopatología , Corteza Cerebral/fisiopatología , Electroencefalografía/métodos , Electromiografía/métodos , Músculo Esquelético/fisiopatología , Mioclonía/diagnóstico , Trastornos Parkinsonianos/fisiopatología , Edad de Inicio , Anciano , Anciano de 80 o más Años , Potenciales Evocados Somatosensoriales/fisiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mioclonía/fisiopatología , Reflejo Anormal/fisiología , Estudios Retrospectivos
19.
J Neurol ; 254(4): 448-52, 2007 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-17401525

RESUMEN

OBJECTIVE: Psychotic symptoms (PS) in Parkinson's disease (PD) usually develop as a side effect of the dopaminergic therapy and consist of hallucinations and delusions. We observed that PD patients who developed delusions tend to be younger than those with hallucinations and we aimed to investigate the validity of this observation. METHODS: The medical records of 127 PD patients with PS were reviewed and 76 patients who were on treatment with dopamine agonists with or without levodopa at the time of developing PS were included. Patients were stratified into 3 groups according to the subtypes of PS: patients with solely hallucinations (n = 46), solely delusions (n = 18), and both types (n = 12). The groups were compared with respect to the age-at-onset of PD and PS, duration of PD, Activities of Daily Living (ADL) and motor subscale scores of Unified PD Rating Scale (UPDRS), and levodopa equivalent dose of the dopaminergic agents administered at the time of PS onset. RESULTS: The mean age-at onset of PD and PS was significantly younger (p = 0.0001) in patients with delusions (49 and 55.9 years) than those with hallucinations (61.9 and 68.9 years). The same parameters were also significantly different (p = 0.002 and p = 0.001, respectively) between the groups of patients with concurrent delusions and hallucinations (51.7 and 57.2 years) and those with only hallucinations. ADL and motor subscale scores were higher in patients with hallucinations (p = 0.016 and p = 0.013) compared with those noted in patients with delusions despite similar disease duration. The mean levodopa equivalent doses of the dopaminergic agents administered at the time of onset of PS did not differ between the groups. CONCLUSION: This study supported an association of delusions with younger onset of both PD and psychosis as compared with hallucinations. However, additional factors related to this association remain to be elucidated.


Asunto(s)
Envejecimiento/fisiología , Antiparkinsonianos/efectos adversos , Deluciones/inducido químicamente , Deluciones/epidemiología , Alucinaciones/inducido químicamente , Alucinaciones/epidemiología , Levodopa/efectos adversos , Edad de Inicio , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/tratamiento farmacológico , Estadísticas no Paramétricas
20.
J Neurol Sci ; 258(1-2): 75-9, 2007 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-17399742

RESUMEN

OBJECTIVES: Diabetic foot lesions develop predominantly in male patients and sensory neuropathy is the most frequent type of neuropathy associated with these lesions. The aim of this study was to analyze the clinical and electrophysiological features in a cohort of patients with diabetic foot. RESEARCH DESIGN AND METHODS: The recordings of 318 consecutive diabetic patients (127 women and 191 men) with an ongoing or healed foot ulcer who had been referred for electrophysiological consultation were evaluated retrospectively. RESULTS: 60.1% of our cohort were male. Loss of deep sensation and deep tendon reflex abnormalities were the most common neurological findings. Negative sensory symptoms (63.7% vs 40.8%, p<0.01) and neuropathic pain (38.5% vs 18.3%, p<0.01) were more frequent in females, whereas atrophy was more frequent in male patients (22.8% vs 46%, p<0.01). Motor nerve conduction abnormalities and ulnar nerve involvement was more frequent and severe in males. Abnormal electrophysiological findings were mild in 70 patients (female 42, 60%). In this group, hemiplegia, peripheral arterial disease, multiple bone fractures, end stage renal failure, recent pulmonary tuberculosis and dementia accompanied mild polyneuropathy. Thirty patients had shown prominent decrease in nerve conduction velocity which indicated severe demyelination. Among these 30 patients, 6 male subjects had clinical features similar to that of chronic inflammatory demyelinating polyneuropathy. CONCLUSIONS: Our results indicate that male gender, motor neuropathy and mononeuropathies, especially ulnar neuropathy is associated with the development of DF among our patients with DF. Patients with diabetes mellitus have a predisposition to develop chronic inflammatory demyelinating polyneuropathy and this may also facilitate formation of diabetic foot. History of hemiplegia, dementia and trauma are permissive risk factors for diabetic foot in the presence of mild polyneuropathy.


Asunto(s)
Neuropatías Diabéticas/complicaciones , Neuropatías Diabéticas/epidemiología , Úlcera del Pie/epidemiología , Úlcera del Pie/etiología , Conducción Nerviosa/fisiología , Potenciales de Acción/fisiología , Anciano , Distribución de Chi-Cuadrado , Estudios de Cohortes , Estimulación Eléctrica/métodos , Electromiografía/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Conducción Nerviosa/efectos de la radiación , Factores Sexuales
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