Ptosis palpebral unilateral como debut de mieloma múltiple / Unilateral ptosis as the initial sign of multiple myeloma

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Association study of the serotoninergic system in migraine in the Spanish population.

In order to evaluate the contribution of 19 serotonin-related genes to the susceptibility to migraine in a Spanish population we performed a case-control association study of 122 single nucleotide polymorphisms (SNPs), selected according to genetic coverage parameters, in 528 migraine patients -308 with migraine without aura (MO) and 220 with migraine with aura (MA)- and 528 sex-matched migraine-free controls. The single-marker analysis identified nominal associations with the migraine phenotype or with the MO or MA subtypes. The multiple-marker analysis revealed risk haplotypes in three genes that remained significantly associated with migraine after correction by permutations. Two-marker risk haplotypes were identified in the HTR2B (rs16827801T-rs10194776G) and MAOA (rs3027400G-rs2072743C) genes conferring susceptibility to MO, and a four-marker haplotype in DDC was specific of MA (rs2329340A-rs11974297C-rs2044859T-rs11761683G). The present study supports the involvement of HTR2B and MAOA genes in the genetic predisposition to MO, while DDC might confer susceptibility to MA. These results suggest a differential involvement of serotonin-related genes in the genetic background of MO and MA.

Parálisis periódica hipercaliémica: presentación de una familia española con la mutación p. Thr704Met en el gen SCN4A / Hyperkalemic periodic paralysis: a Spanish family with the p. Thr704Met mutation in the SCN4A gene

Introducción. La parálisis periódica hipercaliémica (PPHC)es una enfermedad genética de herencia autosómica dominante caracterizada por episodios repetitivos de debilidad muscular con niveles aumentados de potasio en sangre. En este trabajo presentamos los hallazgos clínicos, analíticos, neurofisiológicos y genéticos de una familia con ocho miembros afectados, cinco de los cuales han podido ser estudiados. Pacientes y métodos. Se practicó anamnesis completa, exploración neurológica, analítica general y estudio genético de los cinco pacientes. Dos de los pacientes también fueron explorados a nivel clínico y neurofisiológico durante dos episodios de par¨¢lisis y en un caso se determinaron los niveles de potasio durante una crisis. Resultados. Casi todos los pacientes presentaban de dos a tres episodios diarios de debilidad muscular en las extremidades de entre 30 y 45 min de duración y mostraban hipertrofia de gemelos. Durante los episodios observados se producía una parálisis masiva en las extremidades inferiores y los pacientes presentaban arreflexia osteotendinosa generalizada. Los niveles de potasio del probando medidos durante uno de los episodios eran elevados. El análisis genético mostró en todos los afectados la presencia de la mutación p.Thr 704Met en la subunidad EÁ del canal de sodio de músculo esquelético, codificada por el gen SCN4A.Conclusiones. Los hallazgos expuestos se corresponden con lo descrito en la literatura, aunque en esta familia destaca la elevada frecuencia de episodios. La PPHC es una canalopatía causada por mutaciones en el gen SCN4A, aunque sólo se detectan alteraciones en el 70% de los pacientes. Los miembros afectados de la familia estudiada son portadores de una mutación frecuente, p.Thr704Met, asociada a una forma grave de la enfermedad (AU)

Introduction. Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disease characterized by recurrent episodes of muscular weakness with increased blood potassium levels. Here we present the clinical, analytical, neurophysiological and genetic findings of a family with eight affected individuals, five of which were available for study. Patients and methods. The five patients were subjected to complete anamnesis, neurological examination, routine blood analysis and genetic study. Two of the patients were also examined both at the clinical and neurophysiological levels. In one case, the potassium levels were determined during a crisis. Results. Almost all patients presented 2 to 3 episodes of muscle weakness of the limbs per day of 30-45 min, and showed calf hypertrophy. During the observed episodes, the paralysis was massive in the lower limbs and the patients showed generalized osteotendinous areflexia. The potassium levels of the proband us measured during one of the episodes were elevated. The genetic analysis showed that all the affected individuals carried the p.Thr704Met mutation in the a subunit of the skeletal muscle sodium channel, encoded by the SCN4A gene. Conclusions. Our findings correlate well with those reported previously in HYPP, although the frequency of the episodes is exceptionally high in our family. HYPP is a channelopathy caused by mutations in the SCN4A gene, although molecular alterations have only been identified in 70 % of the patients. The affected members of the studied family bear a frequent mutation, p.Thr704Met associated with a severe presentation of the disease (AU)

[Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene]. / Parálisis periódica hipercaliémica: presentación de una familia española con la mutación p.Thr704Met en el gen SCN4A.

INTRODUCTION: Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disease characterized by recurrent episodes of muscular weakness with increased blood potassium levels. Here we present the clinical, analytical, neurophysiological and genetic findings of family with eight affected individuals, five of which were available for study. PATIENTS AND METHODS: The five patients were subjected to complete anamnesis, neurological examination, routine blood analysis and genetic study. Two of the patients were also examined both at the clinical and neurophysiological levels. In one case, the potassium levels were determined during a crisis. RESULTS: Almost all patients presented 2 to 3 episodes of muscle weakness of the limbs per day of 30-45 min, and showed calf hypertrophy. During the observed episodes, the paralysis was massive in the lower limbs and the patients showed generalized osteotendinous areflexia. The potassium levels of the probandus measured during one of the episodes were elevated. The genetic analysis showed that all the affected individuals carried the p.Thr704Met mutation in the a subunit of the skeletal muscle sodium channel, encoded by the SCN4A gene. CONCLUSIONS: Our findings correlate well with those reported previously in HYPP, although the frequency of the episodes is exceptionally high in our family. HYPP is a channelopathy caused by mutations in the SCN4A gene, although molecular alterations have only been identified in 70 % of the patients. The affected members of the studied family bear a frequent mutation, p.Thr704Met, associated with a severe presentation of the disease.

[Transient Brown-Séquard syndrome due to spontaneous spinal epidural hematoma]. / Síndrome de Brown-Séquard transitorio por hematoma epidural espinal espontáneo.

Spinal epidural hematoma (SEH) is a low incidence injury. When the cause of bleeding is unknown, which occurs in 50% of the cases, we refer to it as spontaneous SEH. The clinical presentation is characterized by acute radicular pain followed by cord compression syndrome. Brown-Séquard syndrome is exceptional as a result of a SEH. Although standard treatment is prompt surgical evacuation of the hematoma, spontaneous resolution has also been reported. We present a case of spontaneous SEH in a 69 year-old man. An MRI revealed an hematoma in the right posterior epidural space extending from C6 to T2. The hematoma was manifested as a paresis of the right limbs and sensory loss of the left side below C7 level. During the first hours the neurological deficit was improved without treatment and consequently a conservative management was continued. After 72 h, the patient was completely recovered. We have reviewed the 14 cases of spinal epidural hematoma and Brown- Séquard syndrome previously reported, only 2 of them were resolved by conservative management. We conclude that when SEH presents as Brown-Séquard syndrome it usually has a more benign course and that in some cases a conservative management can be considered.

Síndrome de Brown-Séquard transitorio por hematoma epidural espinal espontáneo / Transient Brown-Séquard syndrome due to spontaneous spinal epidural hematoma

El hematoma epidural espinal (HEE) es una lesión con una baja incidencia. Cuando no se puede identificar ninguna causa responsable del sangrado, lo que ocurre aproximadamente en el 50 per cent de los casos, se denomina HEE espontáneo. La sintomatología clínica consiste en dolor raquídeo agudo, seguido de un síndrome de compresión medular. La presentación en forma de un síndrome de Brown-Séquard es excepcional. El tratamiento de elección es la evacuación quirúrgica temprana del hematoma, aunque también se han descrito casos de resolución espontánea. Aportamos un nuevo caso de HEE que se presentó de forma espontánea en un varón de 69 años. El diagnóstico se realizó por RNM, que puso de manifiesto un hematoma en la zona posterior derecha del espacio epidural, extendiéndose de C6 a D2. Se manifestó en forma de paresia de las extremidades derechas e hipoestesia del hemicuerpo izquierdo, con nivel sensitivo C7. En las primeras horas el paciente notó mejoría de su déficit neurológico sin ningún tratamiento, por lo que se adoptó una actitud conservadora. A las 72 h la recuperación era completa. Realizamos una revisión de los 14 casos de hematoma epidural espinal y síndrome de BrownSéquard descritos anteriormente, sólo dos de los cuales se resolvieron de forma espontánea. Concluimos que los HEE que clínicamente se manifiestan con un síndrome de Brown-Séquard agudo poseen una evolución más benigna y en algunos casos pueden resolverse con tratamiento conservador. (AU)

Brain cortical activation during guitar-induced hand dystonia studied by functional MRI.

Focal hand dystonia in musicians is a strongly task-related movement disorder. Typically, symptoms become apparent only when players execute specific overpracticed skilled exercises on their instrument. We therefore examined five guitarists with functional MRI during dystonic symptom provocation by means of an adapted guitar inside the magnet. The activation patterns obtained in comparable nondystonic guitarists and in the study patients when performing normal-hand exercise served as references. A 1.5-T system equipped with echo-speed gradients and single-shot echoplanar imaging software was used. Data acquisition was centered on the cortical motor system encompassed in eight contiguous slices. Dystonic musicians compared with both control situations showed a significantly larger activation of the contralateral primary sensorimotor cortex that contrasted with a conspicuous bilateral underactivation of premotor areas. Our results coincide with studies of other dystonia types in that they show an abnormal recruitment of cortical areas involved in the control of voluntary movement. However, they do suggest that the primary sensorimotor cortex, rather than being underactive in idiopathic dystonic patients, may be overactive when tested during full expression of the task-induced movement disorder.

[Pure alexia: presentation of three cases and review of the literature]. / Alexia pura: presentación de tres casos y revisión de la literatura.

INTRODUCTION: Pure alexia is a syndrome characterized by the inability to read aloud in the absence of agraphia or apnasia. CLINICAL CASES: Three clinical cases showing this syndrome are presented. Case I had a left occipital lesion compatible with a subacute haematoma. He had problems with reading, visuo-spatial recognition, digital gnosia and memorizing texts. One year later there was considerable improvement in most of the sub-tests evaluated. There was still deficient colour naming right/left orientation and understanding of letters and words. Case 2 presented with a right homonymous hemianopia and slight left paresis. He had a small left occipital ischaemic infarct. One year later there was improvement on testing, with some deficit still in visual recognition, naming colours and memory. Case 3 presented with right homonymous hemianopia, slight right paresis and a left occipito-parietal expansive lesion. He had defective reading, choosing and naming of colours, right/left orientation and memory. On later evaluation, considerable improvement was seen. There was still colour agnosia, although less severe and mild 'laziness' of the right side. CONCLUSIONS: In the review of the literature, the disorder and the contributions of various authors, from Déperine in 1892 to the present day, are considered in detail.

[Primary dural lymphoma]. / Linfoma dural primario.

We describe a 48-year-old woman with an intracranial tumor located in the meninges. Radiologic images were consistent with meningioma. Pathology showed that it was well differentiated and diffuse lymphocytic lymphoma. No evidence of systemic disease was found. Primary meningeal lymphomas generally infiltrate the subarachnoid space in a diffuse way and their presentation as focal and localized masses in unusual.

Hereditary spastic paraparesis with dementia, amyotrophy and peripheral neuropathy. A neuropathological study.

Hereditary, probably autosomal recessive, spastic paraparesis in two siblings was associated with dementia of frontal lobe type, amyotrophy and peripheral sensory and motor polyneuropathy. Neuropathological findings correlate with neurological deficits, although neuron loss in the caudate and putamen, substantia nigra, and loss of Purkinje cells were clinically silent. Loss of neurons occurred in all cortical layers of the prefrontal lobe and superior temporal gyrus. Immunohistochemical studies showed reduced parvalbumin immunoreactivity in dendrites, and reduced numbers of calbindin D28k-immunoreactive cells, thus suggesting involvement of cortical local-circuit neurons. Myelin loss, ubiquitin-immunoreactive granular deposits, and nerve fibre degeneration in the white matter of the frontal lobes and corpus callosum were also observed. Cerebral and subcortical white matter abnormalities, together with atrophy of the thalamic dorsomedial complex and anterior nucleus, may have accounted for the development of severe dementia in this patient.