ABSTRACT
BACKGROUND: Functional gait is a disorder of ambulation and balance internally inconsistent and incongruent with the phenotypic spectrum of neurological gait disorders. OBJECTIVES: This paper aims to clinically characterize patients with functional ataxia. METHODS: Patients with functional ataxia were analyzed out of 1350 patients in Ataxia Unit of the Federal University of São Paulo circa 2008 to 2022. RESULTS: Thirteen patients (1 %) presented with functional ataxia; all female, with a median age of 34.8 years. Six (46.2 %) had psychiatric comorbidities and 7 (53.8 %) endorsed a trigger. Diagnostic features included variable base and stride (100 %), "huffing and puffing" (30.7 %), knee-buckling (30.7 %), uneconomic posturing (38.5 %), tightrope walking (23 %), and trembling gait (15.4 %). Remarkably, no falls were reported in any case. 53.8 % recovered fully or partially, despite no treatment. CONCLUSIONS: Variability of base and stride are universal features of functional ataxia, yet falls are inconspicuous. Functional Ataxia is rare even in a specialized ataxia center.
Subject(s)
Ataxia , Gait , Humans , Female , Adult , TremorABSTRACT
Movement disorders comprise a heterogeneous and complex group of neurological disorders that increase (hyperkinetic) or decrease (hypokinetic) the speed or amplitude of movements, or disrupt their coordinated sequencing. In this article, we describe three instructive cases, exemplifying classic movement disorders, namely dystonia, chorea, and ataxia. We highlight the diagnostic approach based on clinical clues, syndromic reasoning, evaluation, and management recommendations. Each case ends with key messages for the clinicians.
Subject(s)
Chorea , Dystonia , Dystonic Disorders , Movement Disorders , Humans , Chorea/diagnosis , Chorea/therapy , Dystonia/diagnosis , Dystonia/therapy , Movement Disorders/diagnosis , Ataxia/diagnosis , Ataxia/therapyABSTRACT
Epilepsia partialis continua manifests as low-frequency, rhythmic involuntary movements of a focal body part. We report a young man, HIV-positive and with syphilis, who developed right-hand epilepsia partialis continua associated with a small left-sided cortico-subcortical frontal lesion. A pen and paper test provided 'mechanographic' data on frequency, amplitude and rhythmicity of the hand movements, helping distinguish it from other causes of low-frequency repetitive hand movements.
Subject(s)
Dyskinesias , Epilepsia Partialis Continua , Dyskinesias/complications , Electroencephalography , Epilepsia Partialis Continua/complications , Epilepsia Partialis Continua/diagnostic imaging , Hand , Humans , MaleABSTRACT
The genetic and phenotypic heterogeneity of neurogenetic diseases forces patients and their families into a "diagnostic odyssey." An increase in the variability of genetic disorders and the corresponding gene-disease associations suggest the need to periodically re-evaluate the significance of variants of undetermined pathogenicity. Here, we report the diagnostic and clinical utility of Targeted Gene Panel Sequencing (TGPS) and Whole Exome Sequencing (WES) in 341 patients with suspected neurogenetic disorders from centers in Buenos Aires and Cincinnati over the last 4 years, focusing on the usefulness of reinterpreting variants previously classified as of uncertain significance. After a mean of ±2years (IC 95:0.73-3.27), approximately 30% of the variants of uncertain significance were reclassified as pathogenic. The use of next generation sequencing methods has facilitated the identification of both germline and mosaic pathogenic variants, expanding the diagnostic yield. These results demonstrate the high clinical impact of periodic reanalysis of undetermined variants in clinical neurology.
Subject(s)
High-Throughput Nucleotide Sequencing , Humans , Exome SequencingABSTRACT
PURPOSE OF REVIEW: We provide a review of the movement disorders that complicate selected metabolic disorders, including the abnormal movements that may appear during or after their treatment. RECENT FINDINGS: Movement disorders may be underrecognized when arising in the context of a broad range of metabolic disorders. Abnormal movements may occur as the initial manifestation of a systemic disease, at any time during its course, or as a result of the medical interventions required for its management. Ascertaining movement phenomenology in acute and subacute presentations may assist in the determination of the specific underlying metabolic disorder. The management of movement disorders associated with metabolic disorders depends on the underlying pathophysiology.
Subject(s)
Metabolic Diseases/complications , Movement Disorders/etiology , Dyskinesias , HumansSubject(s)
Chorea/etiology , Epilepsy/complications , Adult , Brain Waves/physiology , Electroencephalography , Female , HumansABSTRACT
Background: Arm levitation is an involuntary elevation of the upper limb, a manifestation of the alien-limb phenomenon. It has rarely been reported in Creutzfeldt-Jakob disease (CJD), less so as an initial manifestation. Case Report: We report a 56-year-old right-handed man with rapidly progressive gait ataxia and involuntary elevation of the left upper limb. During the next few weeks, the patient developed cognitive impairment, apraxia, visual hallucinations, and myoclonus. He met diagnostic criteria for CJD. We evaluated additional published cases of early-appearance of alien-limb phenomenon in the context of CJD; there were 22 such cases and alien-limb phenomenon was the first and exclusive manifestation in only five of them. Discussion: Arm levitation may be a distinct presentation of CJD, appearing earlier than other clinical features.
Subject(s)
Alien Limb Phenomenon/diagnosis , Creutzfeldt-Jakob Syndrome/diagnosis , Alien Limb Phenomenon/physiopathology , Arm , Brain/diagnostic imaging , Brain/physiopathology , Creutzfeldt-Jakob Syndrome/physiopathology , Diagnosis, Differential , Humans , Male , Middle AgedABSTRACT
We report the case of a 54-year-old right-handed man who presented with a 2-year history of progressive upper-limb weakness with mild dysarthria and prominent involuntary perioral abnormal movements that were characterized as fasciculations. Electromyography disclosed motor neuron disease. The diagnosis of Kennedy's disease was established by polymerase chain reaction. Perioral abnormal movements and fasciculations may represent important clinical clues to the diagnosis of Kennedy's disease, particularly when associated with proximal muscle atrophy and gynecomastia. In suspected cases, genetic testing for elevated CAG repeats in the androgen receptor Xq12 gene is warranted.
Subject(s)
Bulbo-Spinal Atrophy, X-Linked/genetics , Fasciculation/genetics , Muscular Atrophy/genetics , Bulbo-Spinal Atrophy, X-Linked/complications , Bulbo-Spinal Atrophy, X-Linked/diagnosis , Electromyography/methods , Fasciculation/diagnosis , Fasciculation/etiology , Genetic Testing , Humans , Male , Middle Aged , Polymerase Chain Reaction/methodsABSTRACT
Progressive ambulatory impairment and abnormal white matter (WM) signal on neuroimaging come together under the diagnostic umbrella of vascular parkinsonism (VaP). A critical appraisal of the literature, however, suggests that (1) no abnormal structural imaging pattern is specific to VaP; (2) there is poor correlation between brain MRI hyperintensities and microangiopathic brain disease and parkinsonism from available clinicopathologic data; (3) pure parkinsonism from vascular injury ("definite" vascular parkinsonism) consistently results from ischemic or hemorrhagic strokes involving the SN and/or nigrostriatal pathway, but sparing the striatum itself, the cortex, and the intervening WM; and (4) many cases reported as VaP may represent pseudovascular parkinsonism (e.g., Parkinson's disease or another neurodegenerative parkinsonism, such as PSP with nonspecific neuroimaging signal abnormalities), vascular pseudoparkinsonism (e.g., akinetic mutism resulting from bilateral mesial frontal strokes or apathetic depression from bilateral striatal lacunar strokes), or pseudovascular pseudoparkinsonism (e.g., higher-level gait disorders, including normal-pressure hydrocephalus with transependimal exudate). These syndromic designations are preferable over VaP until pathology or validated biomarkers confirm the underlying nature and relevance of the leukoaraiosis. © 2015 International Parkinson and Movement Disorder Society.
Subject(s)
Cerebrovascular Disorders/classification , Parkinsonian Disorders/classification , Cerebrovascular Disorders/pathology , Cerebrovascular Disorders/physiopathology , Humans , Parkinsonian Disorders/pathology , Parkinsonian Disorders/physiopathology , SyndromeABSTRACT
BACKGROUND: A mean of 10 years elapse before patients with Parkinson's disease (PD) reach Hoehn & Yahr (H&Y) stage 4, and 14 years for stage 5. A small proportion of PD patients survive and are ambulatory for ≥ 20 years. We sought to identify features associated with long-duration PD (dPD). METHODS: This five-center, case-control study compared 136 PD patients with ≥ 20 years of duration and H&Y stage ≤ 4 (dPD) to 134 H&Y-, age- and gender-matched PD patients between 10 and 15 years of disease (cPD). RESULTS: By study design, there were no between-group differences in age, gender and H&Y. dPD subjects were younger at onset (p < 0.0001), had more psychosis (p: 0.038), were receiving higher levodopa equivalent daily doses (p: 0.02), were predominantly left-handed (p: 0.048), and had greater frequency of left-sided onset (p: 0.015) compared to cPD subjects. Both groups had similar rates of resting tremor, dementia and REM sleep behavior disorder. CONCLUSIONS: Early disease onset, left-handedness and left-sided onset are associated with long disease and ambulatory PD survival. The neurobiological basis of the prognostic value of lateralization deserves further investigation.
Subject(s)
Functional Laterality/physiology , Levodopa/therapeutic use , Parkinson Disease/physiopathology , REM Sleep Behavior Disorder/physiopathology , Adult , Age of Onset , Aged , Aged, 80 and over , Case-Control Studies , Dementia/complications , Disease Progression , Female , Humans , Longevity/physiology , Male , Middle Aged , REM Sleep Behavior Disorder/complications , Tremor/complicationsABSTRACT
The authors present a historical review of the seminal clinical contribution of Professor Américo Negrette, a Venezuelan neurologist, to the evolution of scientific knowledge about Huntington's disease.
Subject(s)
Huntington Disease/history , Neurology/history , History, 20th Century , History, 21st Century , Humans , VenezuelaABSTRACT
The authors present a historical review of the seminal clinical contribution of Professor Américo Negrette, a Venezuelan neurologist, to the evolution of scientific knowledge about Huntington's disease.
Os autores apresentam uma revisão histórica sobre a magistral contribuição clínica do Professor Américo Negrette, neurologista venezuelano, na evolução do conhecimento científico sobre a doença de Huntington.
Subject(s)
History, 20th Century , History, 21st Century , Humans , Huntington Disease/history , Neurology/history , VenezuelaABSTRACT
Los síndromes paraneoplásicos se caracterizan por la presencia de signos y síntomas que ocurren lejos del sitio del tumor o de sus metástasis. Muchos de estos síndromes son mediados por hormonas, citoquinas, u otras sustancias secretadas por células tumorales, así como por una respuesta inmune contra el tumor. La presencia de anticuerpos generados para combatir el tumor puede resultar en un síndrome neurológico si las células del sistema nervioso son afectadas. Las primeras descripciones de tales casos datan más de 20 años, cuando los anticuerpos anti-Hu y anti-Yo fueron descritos. Existe una variedad de síndromes paraneoplásicos, incluyendo cuadros neurológicos clásicos y diversos. En este artículo de revisión hemos querido enfatizar un cuadro neuropsiquiátrico que corresponde a un síndrome paraneoplásico descrito recientemente, aunque también puede ocurrir en pacientes sin presencia tumoral aparente. Se trata de la encefalitis asociada a anticuerpos contra los receptores N-metil-D-aspartato (NMDA). Nuestro interés en dicho síndrome, como especialistas en trastornos del movimiento, se basa en la presencia común de movimientos anormales en esta enfermedad. Sin embargo los pacientes afectados, la mayoría mujeres con teratoma ovárico, presentan un cuadro mixto, psiquiátrico inicialmente, seguido por epilepsia, empeoramiento de conciencia, disautonomía y distonía orofacial y truncal. Como resultado, la relevancia de la encefalitis asociada a anticuerpos contra los receptores NMDA abarca una variedad de especialidades incluyendo psiquiatría, neurología, oncología, inmunología, radiología, medicina general y cirugía.
As early as the late 1990s, a severe and potentially fatal multi-faceted disease, occurring predominantly in women, was reported in Japan. The earliest patients presented with psychosis or memory problems which rapidly progressed into numerous neurological complications which required intensive care. There were many different descriptions and labels attributed to the disease, thus delaying its classification as a paraneoplastic syndrome. In early 2007, this disease was characterized as an acute form of encephalitis-termed anti-N-methyl-D-aspartate (NMDA) encephalitis.