RESUMEN
BACKGROUND AND PURPOSE: To evaluate the phenotype and the frequencies of mutations in PRKN, DJ1 and PINK1 genes in patients with Parkinson disease (PD) in Turkey. METHODS: Eighty-six patients from 77 PD families participated in the study. Seventy-four families were originating from Turkey, two families from Greece and one family from Bulgaria. All patients underwent detailed neurological examination. PRKN, PINK1 and DJ1 genes were sequenced, and dosage analysis was performed by multiplex ligation-dependent probe amplification. RESULTS: Sixteen patients with PD were found to carry homozygous (n = 14) or compound heterozygous (n = 2) PRKN mutations. We identified exon rearrangements, three point mutations and one new point mutation in exon 2 (p.K27del). In two families, two new PINK1 point mutations (L31X and P416L) were identified. No pathogenic mutations were found in DJ1 gene. Clinical phenotypes of PRKN patients were comparable to previously described features, but only in four of 13 families, the pedigree structure was clearly consistent with an autosomal recessive (AR) mode of inheritance in comparison with nine families where also different pattern of transmission could have been possible. CONCLUSIONS: Our data suggest that the PRKN gene mutation is the most frequent form of ARPD in Turkey. The proportion of mutations with regard to the age of onset in our population is in the range of those previously described, but our pedigrees are characterized by high rate of consanguinity, which might explain the high proportion of families with homozygous mutations and of patients in more than one generation. Pathogenic DJ1 mutations do not seem to play a major role in Turkey.
Asunto(s)
Péptidos y Proteínas de Señalización Intracelular/genética , Mutación/genética , Proteínas Oncogénicas/genética , Trastornos Parkinsonianos/genética , Fenotipo , Proteínas Quinasas/genética , Ubiquitina-Proteína Ligasas/genética , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Distribución de Chi-Cuadrado , Niño , Preescolar , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trastornos Parkinsonianos/epidemiología , Proteína Desglicasa DJ-1 , Factores Sexuales , Turquía/epidemiología , Adulto JovenRESUMEN
OBJECTIVES: To determine a new artifact discharge produced from the disposable concentric needle (DCN) electromyography (EMG) electrodes. METHODS: We have recorded the activity obtained after the first insertion of 41 DCN (37 mm) and 36 DCN (50 mm) in several muscles during the rest. The number of the patients was 77 (26 males, 51 female). RESULTS: We observed an artifact discharge (AD) resembling positive sharp waves (PSWs) in 31 patients of 77 insertions. The AD occurred with 18 of 41 insertions of DCN 37 mm and 13 of DCN 50 mm. The artifact resolved when the needle has been moved in the muscle or in the adipose subcutaneous tissue. CONCLUSION: This AD should be recognized when using DCN electrodes to avoid confusion with PSWs. Recognizing these artifacts during needle EMG is important to avoid false positive results.
Asunto(s)
Artefactos , Equipos Desechables , Electrodos , Electromiografía , Agujas , Enfermedades Neuromusculares/fisiopatología , Adolescente , Adulto , Diagnóstico Diferencial , Falla de Equipo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/fisiopatologíaRESUMEN
F tacheodispersion and some F wave parameters have previously been suggested to be useful in the detection of peripheral nerve involvement in diabetic patients with normal nerve conduction studies. In this study, ulnar and tibial F wave parameters of diabetic cases with normal motor and sensory nerve conduction studies (Group 1) were calculated, F tacheodispersion histograms were constructed and compared with the same parameters obtained from the normal controls (Control group) and diabetic cases with abnormal motor and sensory nerve conduction examinations (Group 2). There was a tendency towards lower conduction velocities in ulnar and tibial tacheodispersion histograms of Group 1 and Group 2, as compared to Control group. Most of the F wave values were significantly abnormal in Group 2 in comparison to other two groups, whereas statistically significant differences between Group 1 cases and Control group were found in minimum ulnar F wave conduction velocity (FCVmin), mean ulnar FCV (FCVmean), tibial FCVmin and tibial FCVmean values. Unlike other methods, F waves give information about the entire length of the motor nerve fiber. In mild neuropathies, in which nerve fibers are damaged uniformly, testing the whole length of a nerve with this method may be beneficial in detection of a mild conduction abnormality.
Asunto(s)
Neuropatías Diabéticas/diagnóstico , Electromiografía , Adulto , Neuropatías Diabéticas/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neuronas Motoras/fisiología , Conducción Nerviosa/fisiología , Tiempo de Reacción/fisiología , Valores de Referencia , Sensibilidad y Especificidad , Células Receptoras Sensoriales/fisiología , Nervio Tibial/fisiopatología , Nervio Cubital/fisiopatologíaRESUMEN
OBJECTIVES: The purpose of this study was to determine the electrophysiological consequences of neuromuscular and central nervous system involvement in a group of patients presented with the neurological complications of a long-term hunger strike (HS). METHODS: Motor and sensory nerve conduction (NCV), F wave, somatosensory evoked potential (SEP) and motor evoked potential (MEP) studies were performed in 12 male and 3 female patients (mean age: 29.4) following HS. RESULTS: All patients whose weight loss was 11-31 (mean: 22.8) kg after 69-day HS, had neurological findings consistent with Wernicke's encephalopathy or Wernicke-Korsakoff syndrome. Abnormally prolonged latency and/or low amplitude sensory nerve action potentials were found in 7 patients. The amplitudes of compound muscle action potentials were significantly reduced in ulnar, median and tibial motor NCV studies as compared to the controls. F waves elicited by median nerve stimulation at wrist and muscle responses evoked by cervical and lumbar magnetic stimulation had significantly prolonged latencies. MEPs recorded from the lower extremities showed a slight prolongation in central conduction times. The cortical response latencies were prolonged in tibial SEPs. CONCLUSIONS: The most prominent finding in this patient group was the low amplitude of CMAPs elicited in motor NCV studies which was concluded to be resulted from the reversible muscular changes. The other electrophysiological findings suggested that peripheral nerves and long central nervous system pathways were also mildly involved.
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Sistema Nervioso Central/fisiopatología , Potenciales Evocados Somatosensoriales/fisiología , Músculos/fisiopatología , Conducción Nerviosa/fisiología , Inanición/fisiopatología , Potenciales de Acción/fisiología , Adulto , Femenino , Humanos , Masculino , Factores de TiempoRESUMEN
We used a concentric needle electrode (CNE) with 2 kHZ low-cut filter and a single fiber electrode (SFE) in the same subjects for neuromuscular jitter measurement in the extensor digitorum communis (EDC) and orbicularis oculi (OOc) muscles. At the same session, 20 jitter values were obtained from each subject with each electrode. For EDC (during voluntary contraction), mean jitter values with SFE and CNE were 23.4 +/- 8 micros and 23.3 +/- 8 micros in 10 normals; and 56.8 +/- 28 micros and 57.4 +/- 33 micros in 10 myasthenics. For OOc (during electrical stimulation), mean jitter values with SFE and CNE were 17.9 +/- 5 micros and 16.3 +/- 4 micros in 11 normal subjects, and 41.2 +/- 29 micros and 36.7 +/- 27 micros in 10 myasthenics. For both muscles, the numbers of individual abnormal jitter values with SFE and CNE were highly comparable. Both needles labeled the same patients as having "normal" or "abnormal" neuromuscular transmission. CNE may be an alternative to SFE in neuromuscular jitter analysis.
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Fibras Musculares Esqueléticas/fisiología , Miastenia Gravis/fisiopatología , Unión Neuromuscular/fisiología , Unión Neuromuscular/fisiopatología , Músculos Oculomotores/fisiopatología , Adolescente , Adulto , Anciano , Estimulación Eléctrica , Electromiografía/instrumentación , Electromiografía/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Contracción Muscular , Agujas , Músculos Oculomotores/fisiología , Valores de ReferenciaRESUMEN
In 2 patients with neuromyotonia, nerve blocks had no effect on the abnormal activity, while intramuscular injection of the botulinum toxin abolished the discharges in one and greatly diminished them in the other. Botulinum toxin thus helps to localize the origin of the neuromyotonic discharges to the terminal regions of the peripheral nerve in those cases where the more proximal portions cannot be held responsible.
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Toxinas Botulínicas/farmacología , Fasciculación/diagnóstico , Enfermedades del Sistema Nervioso Periférico/diagnóstico , Adulto , Electromiografía , Humanos , Inyecciones Intramusculares , MasculinoRESUMEN
Magnetic cervical nerve root stimulation was performed in 9 patients with plexopathies secondary to suspension (SP) and in 12 cases with neurogenic thoracic outlet syndrome (NTOS). The findings were compared with those of the previously reported case groups: n-hexane polyneuropathy (HPNP), inflammatory demyelinating polyneuropathy (IDP), and motor neuron disease (MND). Muscle responses elicited by magnetic stimulation had very high rates of amplitude and area loss in the neck-axilla segments of the 6 SP patients. This, along with the other electrophysiological findings, suggested the presence of segmentally demyelinating plexus lesions. In NTOS patients, magnetic stimulation findings were not significantly different from those of the controls. Neck-axilla segment amplitude and are reduction rates in SP and IDP patients were significantly higher than those found in NTOS, HPNP, and MND groups, implying that magnetic nerve root stimulation may have a role in the demonstration of segmentally demyelinating lesions involving proximal nerve segments.
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Axones/patología , Plexo Braquial/lesiones , Plexo Braquial/fisiopatología , Enfermedades Desmielinizantes/fisiopatología , Raíces Nerviosas Espinales/lesiones , Adolescente , Adulto , Brazo , Estimulación Eléctrica , Electromiografía , Femenino , Humanos , Magnetismo , Masculino , Degeneración Nerviosa/fisiología , Conducción Nerviosa/fisiología , Raíces Nerviosas Espinales/fisiopatología , TorturaRESUMEN
Clinical and electrophysiological findings of 47 asymptomatic females who received radiation therapy (RT) over their brachial plexus region are presented and compared with 8 radiation-induced brachial plexopathy (RBP) and 4 neoplastic brachial plexopathy (NBP) patients. In the asymptomatic group, abnormal findings were more frequent in patients whose post-RT period was longer than 1 year. Flexor carpi radialis H reflex was delayed or absent in 19 patients (52%) in this subgroup of asymptomatic cases, as compared to only 2 (18%) of the patients with post-RT periods of less than 1 year. Magnetic cervical nerve root stimulation was performed in 16 asymptomatic cases, with the conclusion that there was no significant difference between the irradiated and non-irradiated sides with regard to latencies, amplitudes and areas of the muscle responses. In spite of this, muscle response amplitudes and areas on both sides were significantly lower than those obtained from healthy controls. It was postulated that this finding resulted from hypoexcitability to magnetic stimulation produced by slight nerve root damage. Any part of the brachial plexus could be affected in RBP and NBP patients. Myokymic discharges were found at a high rate (87.5%) in RBP group. Cervical magnetic nerve root stimulation may have a diagnostic value in these patients in localizing the nerve lesion over the brachial plexus.
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Plexo Braquial/fisiología , Plexo Braquial/efectos de la radiación , Magnetismo , Neoplasias/radioterapia , Adulto , Anciano , Electromiografía , Potenciales Evocados/fisiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Conducción Nerviosa/fisiologíaRESUMEN
Electrophysiological findings of 27 males with industrial n-hexane polyneuropathy (HPNP) are presented. The results of needle electromyography and nerve conduction studies were compatible with primarily axonal polyneuropathy with secondary segmental demyelination. Motor conduction velocities were the slowest in distal regions of the nerves. In the proximal nerve segments, which were partly tested by magnetic stimulation of the nerve roots, this slowing was much less pronounced. The reduction in mean motor conduction velocities in the forearm segments of ulnar nerves was more than 30% in comparison to the control group means. This reduction was only 10% in the neck-axilla segments. We think that this finding is a reflection of the distal axonopathy process. Central motor conduction times calculated by transcranial magnetic stimulation and spinal nerve root stimulation were found to be prolonged in HPNP patients, indicating that descending motor pathways are affected in human HPNP.
Asunto(s)
Sistema Nervioso Central/fisiopatología , Enfermedades Desmielinizantes/inducido químicamente , Hexanos/envenenamiento , Conducción Nerviosa/efectos de los fármacos , Neurotoxinas/envenenamiento , Nervios Periféricos/fisiopatología , Adolescente , Adulto , Anciano , Sistema Nervioso Central/efectos de los fármacos , Sistema Nervioso Central/fisiología , Niño , Enfermedades Desmielinizantes/fisiopatología , Electromiografía , Electrofisiología/métodos , Femenino , Humanos , Magnetismo , Masculino , Persona de Mediana Edad , Neuronas Motoras/efectos de los fármacos , Neuronas Motoras/fisiología , Nervios Periféricos/efectos de los fármacos , Nervios Periféricos/fisiología , Nervio Peroneo/efectos de los fármacos , Nervio Peroneo/fisiología , Nervio Peroneo/fisiopatología , Valores de Referencia , Nervio Tibial/efectos de los fármacos , Nervio Tibial/fisiología , Nervio Tibial/fisiopatología , Nervio Cubital/efectos de los fármacos , Nervio Cubital/fisiología , Nervio Cubital/fisiopatologíaRESUMEN
The facial nerve was stimulated trascranially with a magnetic stimulator in 14 normal controls, 14 hemifacial spasm patients, and 16 post-facial-palsy synkinesis patients. Magnetic stimulation in normal controls revealed muscle responses which had latencies with a mean value of 4.99 +/- 0.49 ms and amplitudes of 2.41 +/- 1.08 mV. In the same group, transosseal conduction time was calculated to be 1.20 +/- 0.13 ms. In the hemifacial spasm group, the amplitudes of the responses on the affected sides were lower as compared to the unaffected sides (mean values 1.78 vs. 2.41 mV, P = 0.01). Also, the threshold to magnetic stimulation was elevated on the affected sides. These findings are suggestive of the presence of a hypoexcitability to magnetic stimulation in the root entry zone. In the post-facial-palsy synkinesis patients, magnetic stimulation of the affected sides resulted in responses with long latencies and low amplitudes (mean latency 6.34 ms, mean amplitude 0.90 mV). In the recordings made with magnetic stimulation, the difference of the latencies between the two sides was larger as compared to those obtained by electrical stimulation. The transosseal conduction time was also remarkably prolonged on the affected side. These findings may suggest that magnetic stimulation can be an effective method of showing intracranially located lesions of the facial nerve.
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Músculos Faciales/inervación , Músculos Faciales/fisiopatología , Nervio Facial/fisiopatología , Parálisis Facial/fisiopatología , Magnetismo , Espasmo/fisiopatología , Adulto , Anciano , Estimulación Eléctrica , Electromiografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Contracción Muscular/fisiología , Conducción Nerviosa/fisiología , Tiempo de ReacciónRESUMEN
The relationship between cerebrospinal fluid levels of HVA and 5-HIAA and the hypokinetic-rigid symptoms that occurred during oral administration of haloperidol in twenty schizophrenic patients was investigated. Measurement of the silent period in the EMG was used for evaluation of these symptoms. The results support the hypothesis of a positive correlation between the CSF HVA and the hypokinetic-rigid side effect and a negative correlation between the pretherapeutic dopamine turnover and the risk of neuroleptic Parkinsonism.