Craniovertebral Junction Anomalies: An Overlooked Cause of 'Posterior Circulation Stroke'.

Background: Vertebral artery dissection (VAD) is a treatable cause of vertebrobasilar ischemic stroke and can be spontaneous or more commonly traumatic. Craniovertebral junction (CVJ) anomalies are a rare and often overlooked cause of VAD. Objective: The objective of this study was to study cases where CVJ anomaly presented as posterior circulation infarct and to conduct a relevant literature review. Materials and Methods: The medical records of seven patients who were managed for posterior circulation infarct associated with CVJ anomaly at our center from January 2009 through August 2013 were reviewed. PubMed and MEDLINE databases were also searched for similar cases, and the published case reports/series were reviewed. Results: Seven patients met our inclusion criteria and were included in the study. The mean age was 17.4 years (range: 10-35 years). All the patients were males. The most common symptoms were headache, vomiting, and gait ataxia. Slurring of speech was seen in one patient. One patient had repeated episodes of gait ataxia with left-sided weakness with complete recovery in between the episodes. One patient presented in unconscious state. Four patients complained of vertigo. The median duration of symptoms was 7 days (range: 3 days-12 months). Conclusions: CVJ anomalies can present as posterior circulation infarct. One must evaluate all patients with posterior circulation stroke, especially young patients, for possible CVJ anomalies. Dynamic lateral cervical spine X-ray is an important tool to diagnose AAD. CVJ anomalies represent a treatable cause of VAD.

Power and connectivity changes on electroencephalogram in postoperative cerebellar mutism.

INTRODUCTION: Cerebellar mutism syndrome is a debilitating postoperative neurological complication following posterior fossa surgery in children. It is characterized by a significant lack or loss of speech. Injury to the dentato-thalamo-cortical pathway is thought to be the main anatomical substrate of cerebellar mutism syndrome; however, few studies have investigated the physiological changes using computed electroencephalogram. CASE REPORT: Herein, we report a case of a nine-year-old girl who developed cerebellar mutism syndrome after excision of an ependymoma of the fourth ventricle and was followed up with evaluation of aphasia, gross motor function, and scalp electroencephalograms. Her language, dysmetria and gait ataxia gradually improved until day 605 after onset. Computed electroencephalogram analyses were performed for the relative power spectrum and connectivity at each frequency band. On the three electroencephalograms at days 109, 299, and 605 after onset, the relative power spectrum at the delta band transiently decreased and then increased, and the relative power spectrums at theta, beta, and gamma bands transiently increased and then decreased. Only the relative power spectrum in the alpha band continuously increased in the occipital area. Additionally, brain connectivity in the delta, beta, and gamma bands increased continuously. CONCLUSION: We report a case of cerebellar mutism syndrome with recovery of language, dysmetria and gait ataxia in 20 months. Electroencephalogram analyses indicated transient changes in the powers of brain activity and continuous improvements in connectivity during the long follow-up, reflecting the plasticity and remodeling of brain function after cerebellar mutism syndrome. Power and connectivity analyses for EEG might be a tool to investigate underlying pathophysiology of cerebellar mutism syndrome.

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.

BACKGROUND: The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perrault syndrome 5. Perrault syndrome is characterized by sensorineural hearing loss in both males and females and gonadal dysfunction in females. Patients with Perrault syndrome may present early-onset cerebellar ataxia, whereas middle-age-onset cerebellar ataxia caused by TWNK variants is rare. CASE PRESENTATION: A Japanese female born to consanguineous parents presented hearing loss at age 48, a staggering gait at age 53, and numbness in her distal extremities at age 57. Neurological examination revealed sensorineural hearing loss, cerebellar ataxia, decreased deep tendon reflexes, and sensory disturbance in the distal extremities. Laboratory tests showed no abnormal findings other than a moderate elevation of pyruvate concentration levels. Brain magnetic resonance imaging revealed mild cerebellar atrophy. Using exome sequencing, we identified a homozygous TWNK variant (NM_021830: c.1358G>A, p.R453Q). CONCLUSIONS: TWNK variants could cause middle-age-onset cerebellar ataxia. Screening for TWNK variants should be considered in cases of cerebellar ataxia associated with deafness and/or peripheral neuropathy, even if the onset is not early.

Comentarios a: "Temblor ortostático secundario al uso recreativo de disolventes" / Comments to "Orthostatic tremor secondary to recreational use of solvents"

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Characteristics of ataxic gait in familial dysautonomia patients.

INTRODUCTION AND OBJECTIVES: Progressive ataxic gait is a common symptom in individuals with Familial Dysautonomia (FD). At least 50% of adults with FD require assistance with walking. Our aims were to describe the medical condition of individuals with FD (ii) compare their gait characteristics to healthy individuals, and (iii) assess correlations between gait measures, presence of unstable gait pattern and frequency of falls. METHODS: Twelve subjects with FD (7 males, age 25.3±10.6 years) and 16 healthy participants (6 males, age 35.9±11.9 years) were recruited. Gait kinematics, gait symmetry, dynamic muscle activity, and foot deep vibration sensation were recorded. RESULTS: Ataxic gait degrees were: severe (6 out of 12), moderate (4 out of 12) and low (2 out of 12). The number of falls correlated with base width asymmetry. Crouch gait was noted in 3 out of 12 of the subjects. CONCLUSIONS: In-depth quantitative gait analysis of individuals with FD revealed ataxic gait. The ataxic pattern might be a result of combined neurological deficiencies and osseous deformities. Increasing the base of support of patients with FD might increase the symmetry of the base width during gait and decrease the number of falls. Additionally, perturbation treatment and dynamic balance exercises may be recommended in order to improve compensatory strategies. Future investigation of this population should include quantification of osseous rotations of the lower limb in order to fully understand its effect on their gait pattern and falls.

Factores asociados a síntomas depresivos en pacientes con enfermedad de Parkinson / Associated factors with depressive symptoms in patients with Parkinson's disease

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Acute Cerebellar Ataxia Associated with Anti-glutamic Acid Decarboxylase Antibodies Mimicking Miller Fisher Syndrome.

We herein report the case of a 53-year-old man with cerebellar ataxia with anti-glutamic acid decarboxylase antibody (GAD-Ab) who mimicked Miller Fisher syndrome (MFS). He developed ophthalmoplegia, diplopia, and gait ataxia for one week. The serum and cerebrospinal fluid GAD-Ab titers were greatly increased, and the GAD-Ab index suggesting intrathecal antibody synthesis was elevated, while GQ1b-Ab was negative. After steroid pulse therapy and following prednisolone, his symptoms dramatically improved over the course of 11 months with the simultaneous decline of GAD-Ab titers. This case indicates that cerebellar ataxia with GAD-Ab can present with acute neurological findings mimicking MFS, and that steroid therapy has an excellent therapeutic effect.

Gait ataxia in humans: vestibular and cerebellar control of dynamic stability.

During human locomotion, vestibular feedback control is fundamental for maintaining dynamic stability and adapting the gait pattern to external circumstances. Within the supraspinal locomotor network, the cerebellum represents the key site for the integration of vestibular feedback information. The cerebellum is further important for the fine-tuning and coordination of limb movements during walking. The aim of this review article is to highlight the shared structural and functional sensorimotor principles in vestibular and cerebellar locomotion control. Vestibular feedback for the maintenance of dynamic stability is integrated into the locomotor pattern via midline, caudal cerebellar structures (vermis, flocculonodular lobe). Hemispheric regions of the cerebellum facilitate feed-forward control of multi-joint coordination and higher locomotor functions. Characteristic features of the gait disorder in patients with vestibular deficits or cerebellar ataxia are increased levels of spatiotemporal gait variability in the fore-aft and the medio-lateral gait dimension. In the fore-aft dimension, pathologic increases of gait fluctuations critically depend on the locomotion speed and predominantly manifest during slow walking velocities. This feature is associated with an increased risk of falls in both patients with vestibular hypofunction as well as patients with cerebellar ataxia. Pharmacological approaches for the treatment of vestibular or cerebellar gait ataxia are currently not available. However, new promising options are currently tested in randomized, controlled trials (fampridine/FACEG; acetyl-DL-leucine/ALCAT).

Overlap of Myasthenia Gravis and Miller Fisher Syndrome.

In this case report, we describe a patient with myasthenia gravis (MG) and Miller Fisher syndrome (MFS) overlap. A 69-year-old woman presented with acute bilateral ptosis, ophthalmoplegia, ataxic gait, and areflexia. The MFS diagnosis was confirmed with by a positive anti-GQ1b IgG antibody test result. MG was diagnosed from electrophysiological, edrophonium, and serological test results. Although intravenous immunoglobulin therapy is effective for both diseases, two courses of the therapy did not improve the patient's symptoms. However, steroid therapy was effective. Although the overlap of MG and MFS is very rare, it should be considered in the differential diagnosis of neuro-ophthalmic diseases.

Efectos del estado cognitivo sobre las alteraciones del equilibrio y la marcha en ancianos institucionalizados / Effects of cognitive state on balance disturbances and gait disorders in institutionalised elderly

Introducción. El envejecimiento se ha asociado con una mayor prevalencia de deterioro cognitivo, el cual se ha relacionado con alteraciones del equilibrio o trastornos de la marcha. El objetivo de este estudio es identificar si existen diferencias entre sujetos sin y con deterioro cognitivo en cuanto a la calidad de la marcha y el equilibrio. Material y métodos. Se llevó a cabo un estudio observacional en ancianos institucionalizados mayores de 65 años (n = 82). Tras evaluar el deterioro cognitivo con el Mini Examen del Estado Mental (MMSE), se evaluaron las alteraciones en la marcha y el equilibrio con el test de la marcha de 6 min, medición de la zancada, velocidad de la marcha y la prueba cronometrada «Levántate y Anda». Resultados. Se distribuyeron los participantes en 3 grupos: 28 en el grupo sin deterioro cognitivo (MMSE ≥ 27), 29 con deterioro leve (27 < MMSE ≤ 21) y 26 con deterioro moderado (MMSE < 21). Las variables de marcha mostraron diferencias significativas entre grupos en todas las variables analizadas (p < 0,05). Las variables de equilibrio evaluadas mostraron peores resultados asociados a la severidad del deterioro cognitivo. Conclusión. La severidad del deterioro cognitivo se encuentra relacionada con las alteraciones del equilibrio y la marcha, por lo que es necesario el seguimiento clínico de estas variables en población en riesgo (AU)

Background. Ageing has been linked to a high prevalence of cognitive impairment, which, in turn, has been related to balance disturbances and gait disorders. The aim of this study was to identify whether there are differences between subjects with and without cognitive impairment regarding the quality of gait and balance. Material and methods. An observational study was conducted on institutionalised people older than 65 years (n = 82). Gait and balance was evaluated after the assessment of cognitive impairment using the Mini-Mental State Examination (MMSE). Single and dual tests were used including, the 6-minute walking, stride length, and gait speed. Timed Up and Go tests were also used to evaluate balance. Results. he participants were divided into three groups: 28 subjects in the group without cognitive impairment (MMSE ≥ 27), 29 subjects with mild (27 < MMSE ≤ 21) and 26 subjects with moderate cognitive impairment (MMSE < 21). Gait assessment showed significant between-groups differences in all the variables (P < .05). The variables assessing balance also showed significantly worse values in those groups with cognitive impairment. Conclusion. The severity of cognitive impairment is related to impaired balance and gait, thus the clinical monitoring of these variables in population at risk is needed (AU)

Ataxia espinocerebelosa 27: descripción del fenotipo clínico de dos hermanas gemelas con una deleción en el gen FGF14 / Spinocerebellar ataxia-27: description of the clinical phenotype of two twin sisters with a deletion in the FGF14 gene

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Gait analysis and the cumulative gait index (CGI): Translational tools to assess impairments exhibited by rats with olivocerebellar ataxia.

Deviations from 'normal' locomotion exhibited by humans and laboratory animals may be determined using automated systems that capture both temporal and spatial gait parameters. Although many measures generated by these systems are unrelated and independent, some may be related and dependent, representing redundant assessments of function. To investigate this possibility, a treadmill-based system was used to capture gait parameters from normal and ataxic rats, and a multivariate analysis was conducted to determine deviations from normal. Rats were trained on the treadmill at two speeds, and gait parameters were generated prior to and following lesions of the olivocerebellar pathway. Control (non-lesioned) animals exhibited stable hindlimb gait parameters across assessments at each speed. Lesioned animals exhibited alterations in multiple hindlimb gait parameters, characterized by significant increases in stride frequency, braking duration, stance width, step angle, and paw angle and decreases in stride, stance, swing and propulsion durations, stride length and paw area. A principal component analysis of initial hindlimb measures indicated three uncorrelated factors mediating performance, termed Rhythmicity, Thrust and Contact. Deviation in the performance of each animal from the group mean was determined for each factor and values summed to yield the cumulative gait index (CGI), a single value reflecting variation within the group. The CGI for lesioned animals increased 2.3-fold relative to unlesioned animals. This study characterizes gait alterations in laboratory rats rendered ataxic by destruction of the climbing fiber pathway innervating Purkinje cells and demonstrates that a single index can be used to describe overall gait impairments.

Bilateral knee extensor disruption in severe crouch gait.

Crouch gait is one of the most troublesome abnormal gait patterns in ambulant patients with spastic diplegic cerebral palsy (CP). Although CP is a non-progressive condition, crouch gait can result in knee extensor disruption (KED) causing deterioration or cessation of ambulation. Diagnosis of KED in crouch gait is often overlooked. We report a seminal case of a 28-year-old active woman with diplegic CP with severe crouch gait who was referred for gait analysis due to subjective decreased walking speed and endurance. Gait analysis showed kinematic features typical of KED and radiology confirmed the diagnosis.

Gentamicina, causa de ataxia vestibular. A propósito de un caso / Gentamicin, a cause of vestibular ataxia. A case report

Los aminoglucósidos son utilizados para la prevención y el tratamiento de distintas infecciones. Entre sus distintos efectos adversos destacan: nefrotoxicidad, ototoxicidad y bloqueo neuromuscular; con incidencia de ototoxicidad entre el 3-16%, que se manifiesta por sensación de desequilibrio, desviación en la marcha y dificultad para mantener la bipedestación. Presentamos el caso de una mujer de 79 años, que tras ser intervenida por colecistitis y después del tratamiento parenteral con gentamicina, refiere inestabilidad en la marcha y sensación de debilidad en los miembros inferiores. La exploración objetivaba marcha con leve aumento de base de sustentación, sin datos de focalidad, dismetría ni otros datos de afectación cerebelosa. Descartada la pérdida auditiva por otorrinolaringología. Se incluyó en rehabilitación con evolución favorable presentando mínima alteración residual. Los aminoglucósidos continúan siendo una opción terapéutica fundamental. A pesar de los esfuerzos por reducir su toxicidad, continúa siendo frecuente y debe tenerse siempre en cuenta en el diagnóstico diferencial de toda alteración del equilibrio (AU)

Aminoglycosides are used for the prevention and treatment of different infections. Standing out among the different adverse effects are nephrotoxicity, ototoxicity and neuromuscular blockade. Ototoxicity incidence ranges from 3-16% and is manifested by a sensation of imbalance, gait deviation and difficulty remaining in an upright position. We present the case of a 79-year old woman who after an operation due to cholecystitis and parenteral treatment with gentamicin presented walking instability and feelings of weakness in lower limbs. The physical examination showed a slightly increased base of support in walking, no neurologic focality, no dysmetria or other data of cerebellar disease. The Ear-Nose-and Throat Department discarded hearing impairment. She entered into rehabilitation, with favorable evolution and minimal residual alteration. Aminoglycosides continue to be an important therapeutic option. In spite of efforts to reduce their toxicity, their use is still common and they should always be taken into account in the differential diagnosis of any balance alteration (AU)

Severe myopia with unusual retinal anomalies and Dandy-Walker sequence in two sibs. A distinct new neuro-ocular disorder.

We have observed a male and a female, sibs of non-consanguineous parents, affected by severe myopia with characteristic retinal defects and Dandy-Walker variant. The peculiarity of the retinopathy consists of pathological myopia with anomalous vitreal fenestrated membranes in the retinal periphery. We suppose that these associations may configure a new genetic syndrome.