GNAO1 mutation-related severe involuntary movements treated with gabapentin

BackgroundMutations in GNAO1 typically result in neurodevelopmental disorders, including involuntary movements. They may be improved using calcium-channel modulators.CaseThe patient visited our hospital at age 2 years because of moderate global developmental delay. Her intermittent, generalized involuntary movements started at age 8 years. A de novo GNAO1 mutation, NM_020988.2:c.626G > A, (p.Arg209Cys), was identified by whole exome sequencing. At age 9 years, she experienced severe, intermittent involuntary movements, which led to rhabdomyolysis. She needed intensive care with administration of midazolam, dantrolene sodium hydrate, and plasma exchange. We started treating her with gabapentin (GBP), after which she recovered completely. At age 11 years, she developed continuous, generalized involuntary movements. This prompted us to increase the GBP dose, which again resolved the involuntary movements completely.ConclusionIn the case of movement disorders associated with GNAO1 mutations, GBP treatment may be attempted before more invasive procedures are performed.     

Oculogyric crises secondary to lamotrigine overdosage

We report four patients with no preexisting movement disorders who developed oculogyric crises secondary to lamotrigine toxicity and had resolution of these crises after dose reduction. Episode numbers ranged from 1-20 per day and episode duration from 2 s to several hours. Mean plasma concentration of lamotrigine at the time of oculogyric crisis was 15.5 μg/mL, with a mean dose of 16 mg/kg per day.     

Oculogyric crisis: a syndrome of thought disorder and ocular deviation

In 3 patients who suffered oculogyric crises, mental changes accompanied upward deviation of the eyes. In 1 patient, whom we studied in detail, the mental disturbance consisted of a disorder of attention in which pathological fixation of a thought occurred. During the period of upward eye deviation, all functional types of conjugate eye movements were present in the upper field of gaze, suggesting an imbalance of the vertical gaze-holding mechanism. The eyes could be driven down only by a combined blink and downward saccade. Both the thought disorder and the ocular deviation responded promptly to anticholinergic agents. We propose that the disorders of thought and eye movement in oculogyric crisis are linked by a pharmacological imbalance common to both.     

Treatment of tardive dyskinesia with levetiracetam in a transplant patient

Objective –  To describe successful treatment of tardive dyskinesia with levetiracetam.
Background –  Tardive dyskinesia is a late-onset movement disorder caused by exposure to dopamine receptor blocking agents, most commonly neuroleptics. Metoclopramide is frequently used to treat gastrointestinal dysmotility. It has antidopaminergic properties, and is estimated to be responsible for two-thirds of drug-related movement disorders.
Design/methods –  Case report.
Results –  A 68-year-old woman presented with a history of intestinal transplantation (12 years ago; short gut syndrome related to bowel resection for rectal carcinoma) and renal transplantation (1 year ago; diabetes). She developed involuntary movements with stereotypic oro-buccal-lingual dyskinesias and right-sided choreiform movements. Her Abnormal Involuntary Movement Scale score (AIMS) score was 27. She has been treated with metoclopramide for gastrointestinal dysmotility for more than 10 years and was diagnosed with tardive dyskinesia. Treatment with levetiracetam 250 mg orally b.i.d. led to a significant improvement of abnormal movements within a week. Her AIMS score decreased to 8.
Discussion –  Tardive dyskinesia may be quite disabling and options include withdrawal of offending medication, or use of tetrabenazine or reserpine. Several reports also suggested improvement of tardive movement disorders with levetiracetam. In our patient, levetiracetam relieved symptoms of tardive dyskinesia and allowed continuous use of metoclopramide. Larger studies are needed to confirm its efficacy.     

Extraocular muscle dystonia due to acquired (non‐Wilsonian) hepatocerebral degeneration

We present a video report of a patient with advanced non‐Wilsonian cirrhotic liver disease who developed extraocular muscle dystonia (oculogyric crisis) and severe orofaciolingual dyskinesias. Acquired hepatocerebral degeneration causes choreic movements, especially of cranial muscles, but dystonic ocular spasm is an infrequent manifestation of this disorder. This case illustrates that AHD should be considered in the differential diagnosis of extraocular muscle dystonia. © 2008 Movement Disorder Society     

MRI pathology of the globus pallidus in a patient with oculogyric crisis and tremor

A 24-year-old woman developed occasional attacks of oculogyric crisis at the age of 18. She also suffered from postural tremor, dystonic gait, pyramidal tract signs, and peripheral nerve damages. No history of encephalitis was elicited. Nerve conduction velocity revealed decreased velocity and amplitude. Needle electromyography showed a neurogenic pattern. Sural nerve biopsy showed marked Wallerian degenerations. Muscle biopsy revealed small grouped atrophies. It was unlikely that she suffered from juvenile Parkinsonism, and we failed to obtain an evidence of neuronal intranuclear inclusion disease. Recently, Furumoto et al. reported a similar case who developed oculogyric crisis at the age of 12. So far, some authors have reported about changes of MRI image in the putamen and the substantia nigra in extrapyramidal movement disorders. However, few have paid attention to the changes of the pallidum. The most characteristic finding in the present case was the restoration of signal intensity of the globus pallidus on T2 weighted high-field MRI. It is known that pallidal damages produce dystonic disorders. However, the exact role which the pallidum played in pathogenesis of our patient's signs and symptoms is unknown at now.     

Syringomyelic dystonia and athetosis.

Two patients with movement disorders associated with syringomyelia are described, one of whom developed unusual torticollis, and the other had choreoathetoid-dystonic movements of the hand and arm. In each case, the movements resolved with decompression of the syrinx. The literature is reviewed and possible mechanisms explored.     

Paroxysmal movement disorders in severe myoclonic epilepsy in infancy

We report on the electroclinical findings and the results of a molecular genetic study of a patient with typical severe myoclonic epilepsy in infancy (TSME) and three with borderline SME (BSME) who showed paroxysmal movement disorders, such as choreoathetosis, dystonia and ballismus, during their clinical course. BSME was defined as a clinical entity that shares common characteristics with TSME but lacks myoclonic seizures associated with ictal EEG changes. When the paroxysmal movement disorders were first observed, all the patients in this study were being treated with polytherapy including phenytoin (PHT), and these abnormal movements disappeared when PHT was discontinued or reduced. However, on other occasions, two of our cases also showed the same abnormal movements even when not being treated with PHT. One patient with TSME and two of the three patients with BSME had SCN1A gene mutations that lead to truncation of the associated protein. We conclude that paroxysmal movement disorders seen in SME patients were closely related to their AED therapy, especially the use of PHT. It is thought that patients with both TSME and BSME have some predisposition toward paroxysmal movement disorders, and that this predisposition is partly related to sodium channel dysfunction, although some other factors might influence the occurrence of this phenomenon.     

Chorea in patients with AIDS

OBJECTIVE: To describe differing etiologies and possible anatomoclinical correlates of choreic movements in a series of AIDS patients. METHODS: We analyzed the clinical records and neuroimaging data of 5 consecutive AIDS patients who developed choreic movements at our center from January, 1994 to December, 1996. RESULTS: There were 2 cases of focal choreic dyskinesias, 1 of right hemichorea, and 2 of generalized chorea. Onset was acute and febrile in 1 case, and subacute in the other 4. In 1 patient the chorea was the AIDS onset symptom; in another choreic movements were the first neurological symptom following AIDS diagnosis; in 2 patients AIDS had a neurological onset other than chorea; and in the fifth patient buccofacial dyskinesias appeared following the development of bacterial encephalitis. CONCLUSION: Chorea was associated with cerebral toxoplasmosis in 2 patients, progressive multifocal leukoencephalopathy in 1, subacute HIV encephalopathy in another, and was probably iatrogenic in the last. Chorea is not unusual in AIDS, however the causes are variable and careful neuroradiological and clinical evaluation is required to identify them. AIDS-related disease should be considered in young patients presenting with chorea without a family history of movement disorders.     

Psychogenic movement disorders

Diagnosis and treatment of psychogenic movement disorders are challenging for both neurologists and psychiatrists. Symptoms can mimic the full range of organic abnormal involuntary movements, affect gait and speech, or present as unusual undifferentiated movements. Typical clinical characteristics of these disorders are acute onset, fast progression, movement patterns incongruent with organic movement disorders, distractibility, variability, and simultaneous occurrence of various abnormal movements and dysfunctions. Avoidance of iatrogenic damage by unnecessary invasive tests or inappropriate medication, as well as use of appropriate psychiatric treatments are pivotal steps in the management of these disorders. The few clinical trials specific to psychogenic movement disorders focus on antidepressants and psychotherapy. Presence of a comorbid psychiatric diagnosis of depression or an anxiety disorder is a positive prognostic factor, whereas long-standing symptoms, insidious onset of movements, and a psychiatric diagnosis of hypochondriasis, factitious disorder, or malingering are associated with poor outcome.