A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.

BACKGROUND: Previous epidemiologic and genetic studies have suggested a link between Parkinson disease (PD), essential tremor (ET), and restless legs syndrome (RLS). METHODS: We describe the clinical, PET, and pathologic characteristics of an extensive kindred from Arkansas with hereditary PD, ET, and RLS. The pedigree contains 138 individuals. Sixty-five family members were examined neurologically up to 3 times from 2004 to 2010. Clinical data were collected from medical records and questionnaires. Genetic studies were performed. Five family members underwent multitracer PET. Two individuals with PD were examined postmortem. RESULTS: Eleven family members had PD with generally mild and slowly progressive symptoms. Age at onset was between 39 and 74 years (mean 59.1, SD 13.4). All individuals treated with l-dopa responded positively. Postural or action tremor was present in 6 individuals with PD, and in 19 additional family members. Fifteen persons reported symptoms of RLS. PET showed reduced presynaptic dopamine function typical of sporadic PD in a patient with PD and ET, but not in persons with ET or RLS. The inheritance pattern was autosomal dominant for PD and RLS. No known pathogenic mutation in PD-related genes was found. Fourteen of the family members with PD, ET, or RLS had depression. Neuropathologic examination revealed pallidonigral pigment spheroid degeneration with ubiquitin-positive axonal spheroids, TDP43-positive pathology in the basal ganglia, hippocampus, and brainstem, and only sparse Lewy bodies. CONCLUSION: Familial forms of PD, ET, RLS, and depression occur in this family. The genetic cause remains to be elucidated.

[Crossed pattern of sensory loss with left thoracic level in a right dorsolateral medullary infarction]. / Infarto bulbar dorsolateral derecho con nivel sensitivo torácico contralateral.

INTRODUCTION: Medullary infarctions as consequence of vertebro-basilar strokes are frequent findings in clinical practice. Medulla oblongata, the lowest segment of the brainstem, is a dense anatomic structure with different conglomerate of nuclei, ascending and descending pathways within a very small area and tiny insults can present with expressive clinical manifestations. Sensory dysfunction is often a noteworthy element in lateral medullary infarctions and its distribution depends of the site and shape of the lesion within the medulla oblongata. From etiological point of view the most frequent cause of lateral medullary infarctions is atherosclerosis although vertebral dissection has to be carefully ruled out. CASE REPORT: A 65 year-old man with a left pain and temperature sensory level up to T4 in a right lateral medullary infarctions due to ipsilateral PICA territory infarction. Crossed pattern of sensory loss with a sensory level is a quite unusual presentation of lateral medullary infarctions and expresses the involvement of the most external aspect of the spinothalamic tract.

Infarto bulbar dorsolateral derecho con nivel sensitivo torácico contralateral / Crossed pattern of sensory loss with left thoracic level in a right dorsolateral medullary infarction

Introducción. Los infartos medulares secundarios a ictus vertebrobasilares son poco frecuentes en la práctica Clínica. El bulbo raquídeo, el segmento más bajo del tronco encefálico, es una estructura anatómica densa con distintas aglomeraciones de núcleos, vías ascendentes y descendentes dentro de un área muy reducida y pueden aparecer lesiones muy pequeñas con manifestaciones clínicas significativas. Con frecuencia, la disfunción sensitiva es un elemento destacado en casos de infarto medular lateral, y su distribución depende de la localización y forma de la lesión dentro del bulbo raquídeo. Etiológicamente, la causa más frecuente del infarto medular lateral es la aterosclerosis, aunque es necesario asegurarse de que no se trate de una disección vertebral. Caso clínico. Varón de 65 años de edad con un nivel de sensibilidad térmica y dolorosa en el lado izquierdo hasta el nivel D4 en un infarto medular lateral derecho debido a un infarto en el territorio de la PICA ipsilateral. Un patrón cruzado de pérdida sensitiva con un nivel de sensibilidad es una presentación relativamente poco frecuente de infarto medular lateral, e indica la afectación de la cara más externa del tracto espinotalámico(AU)

Introduction. Medullary infarctions as consequence of vertebrobasilar strokes are frequent findings in clinical practice. Medulla oblongata, the lowest segment of the brainstem, is a dense anatomic structure with different conglomerate of nuclei, ascending and descending pathways within a very small area and tiny insults can present with expressive clinical manifestations. Sensory dysfunction is often a noteworthy element in lateral medullary infarctions and its distribution depends of the site and shape of the lesion within the medulla oblongata. From etiological point of view the most frequent cause of lateral medullary infarctions is atherosclerosis although vertebral dissection has to be carefully ruled out. Case report. A 65 year-old man with a left pain and temperature sensory level up to T4 in a right lateral medullary infarctions due to ipsilateral PICA territory infarction. Crossed pattern of sensory loss with a sensory level is a quite unusual presentation of lateral medullary infarctions and expresses the involvement of the most external aspect of the spinothalamic tract(AU)

Infarto bulbar dorsolateral derecho con nivel sensitivo torácico contralateral / Crossed pattern of sensory loss with left thoracic level in a right dorsolateral medullary infarction

Introducción. Los infartos medulares secundarios a ictus vertebrobasilares son poco frecuentes en la práctica clínica. El bulbo raquídeo, el segmento más bajo del tronco encefálico, es una estructura anatómica densa con distintas aglomeraciones de núcleos, vías ascendentes y descendentes dentro de un área muy reducida y pueden aparecer lesiones muy pequeñas con manifestaciones clínicas significativas. Con frecuencia, la disfunción sensitiva es un elemento destacado en casos de infartomedular lateral, y su distribución depende de la localización y forma de la lesión dentro del bulbo raquídeo. Etiológicamente, la causa más frecuente del infarto medular lateral es la aterosclerosis, aunque es necesario asegurarse de que no se trate de una disección vertebral. Caso clínico. Varón de 65 años de edad con un nivel de sensibilidad térmica y dolorosa en el lado izquierdohasta el nivel D4 en un infarto medular lateral derecho debido a un infarto en el territorio de la PICA ipsilateral. Un patrón cruzado de pérdida sensitiva con un nivel de sensibilidad es una presentación relativamente poco frecuente de infarto medular lateral, e indica la afectación de la cara más externa del tracto espinotalámico

Introduction. Medullary infarctions as consequence of vertebro-basilar strokes are frequent findings in clinical practice. Medulla oblongata, the lowest segment of the brainstem, is a dense anatomic structure with different conglomerate of nuclei, ascending and descending pathways within a very small area and tiny insults can present with expressive clinicalmanifestations. Sensory dysfunction is often a noteworthy element in lateral medullary infarctions and its distribution depends of the site and shape of the lesion within the medulla oblongata. From etiological point of view the most frequent cause of lateral medullary infarctions is atherosclerosis although vertebral dissection has to be carefully ruled out. Case report. A 65 year-old man with a left pain and temperature sensory level up to T4 in a right lateral medullary infarctions due to ipsilateralPICA territory infarction. Crossed pattern of sensory loss with a sensory level is a quite unusual presentation of lateral medullary infarctions and expresses the involvement of the most external aspect of the spinothalamic tract