Deep Brain Stimulation for Medication Refractory Tremor in Leber Optic Neuropathy Plus Syndrome.

Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder that presents with acute to subacute onset of unilateral progressive optic neuropathy, with sequential involvement of the fellow eye months to years later. The condition may be accompanied by neurological symptoms, including tremors, dystonia, seizures, or psychosis, in which case, it is termed LHON-plus. Here, we present the case of a 53-year-old man who was initially diagnosed with essential tremor but was later found to have LHON-plus after the onset of bilateral visual loss and a genetic panel. His essential tremor was refractory to standard pharmacological therapies, including propranolol, primidone, and topiramate. As a result, he elected to undergo bilateral deep brain stimulation (DBS) of the bilateral ventral intermediate nucleus of the thalamus with a dramatic improvement in symptoms. To our knowledge, this is the first case of essential tremor presenting in the context of LHON-plus to be treated successfully with DBS. While DBS has been applied in LHON-plus presenting with dystonia with limited success, our outcome suggests that there is promise in this approach and that more research is needed to evaluate it.

A Technique of Deep Brain Stimulation of the Globus Pallidus Interna for Dystonia Under General Anesthesia With Sevoflurane.

Background Globus pallidus interna (GPi) deep brain stimulation (DBS) is an established surgical procedure that confers a benefit in medication refractory dystonia. Patients with generalized dystonia require general anesthesia (GA) for the surgery as their movements may hinder the surgical procedure. General anesthetics tend to dampen the microelectrode recordings (MERs) from the GPi. Methods We describe our experience with a series of consecutive patients with dystonia who underwent bilateral GPi DBS using standard DBS and MER under GA using sevoflurane as the maintenance general anesthetic drug. All patients had Medtronic 3,387 leads implanted and connected to an RC battery. Patients underwent sequential programming of the DBS after the surgery. Results The mean age of the 13 patients who underwent DBS of the GPi for dystonia was 46.5 years with a range from 29 to 71 years. Every patient in our case series received various doses of (1.37% to 2.11%) inhaled sevoflurane for anesthesia maintenance. Sevoflurane provided adequate anesthesia and allowed accurate MERs from the GPi. No adverse effects were encountered. On follow-up and sequential DBS programming, patients had significant improvements in dystonia attesting to the accuracy of the electrode placements. Conclusions We report our experience using sevoflurane for maintenance of GA for bilateral GPi DBS for dystonia. The main benefits identified have been adequate anesthesia and reduction of dystonia-related movements to allow the performance of the DBS surgery. The MER signals from the GPi were not suppressed by sevoflurane. This allowed accurate mapping and placement of the DBS implants in the GPi.

Successful Treatment of Tourette Syndrome With a Combination of Guanfacine and Aripiprazole: A Case Series.

Tourette syndrome (TS) is a disorder of the nervous system that causes motor and vocal tics. Tics occur as sudden onset, rapid stereotyped purposeless movements or sounds. Combination therapies can be utilized for adequate control of motor and vocal tics. Patients diagnosed with TS and treated with aripiprazole and guanfacine from 2011-2022 at Saint Louis University Hospital were retrospectively surveyed. Three patients with TS treated with aripiprazole and guanfacine experienced significant improvement or complete resolution of their motor and vocal tics. In our cohort of three patients, the combination of guanfacine and aripiprazole significantly improved or resolved motor and vocal tics that were previously poorly controlled on other traditional medications.

Levodopa-Responsive Parkinsonian Syndrome Secondary to a Compressive Craniopharyngioma: A Case Report.

Parkinsonism is a rare manifestation of brain tumors that has most commonly been reported in association with gliomas and meningiomas. In this paper, we describe a unique case of secondary Parkinsonism that was precipitated by a craniopharyngioma. A 42-year-old female presented with resting tremors, rigidity, and bradykinesia. Her past medical history was significant for a craniopharyngioma resection four months prior. The postoperative course was complicated by severe delirium, panhypopituitarism, and diabetes insipidus. Notably, she was taking haloperidol and aripiprazole daily for four months to manage her delirium and psychotic episodes. Her preoperative brain MRI showed a compressive effect of the craniopharyngioma on the midbrain and nigrostriatum. Drug-induced Parkinsonism was initially suspected given extended treatment with antipsychotics. Haloperidol and aripiprazole were stopped, and benztropine was started with no improvement. Consequently, the patient was treated with carbidopa/levodopa with symptomatic improvement. A dopamine transporter (DaT) scan was done after starting carbidopa/levodopa and showed asymmetric decreased uptake in dopamine transporter in the striatum. Only one other case of Parkinsonism following craniopharyngioma resection was found in the literature review. Unlike our example, the symptoms resolved following surgical intervention and did not require a long-term treatment with carbidopa/levodopa. The purpose of our case report is to highlight brain tumors as a potential cause of secondary Parkinsonism in younger patients for an early surgical intervention can be curative.

Emerging Pharmacotherapies for Motor Symptoms in Parkinson's Disease.

Parkinson's disease (PD) is the second commonest neurodegenerative disorder in the older adult and is characterized by progressive disabling motor symptoms of bradykinesia, tremor, rigidity, postural instability and also non motor symptoms that affect quality of life. The pharmacotherapy of PD consists of oral, transdermal, and subcutaneous medications, as well as invasive advanced therapies at later stages of the disease. PD medications are often started as monotherapy but with the progression of the illness often there is a need to add more medications and frequently comprises of a challenging polypharmacotherapy. Adverse effects of pharmacotherapy often add to the problems of adequate treatment. Patients and physicians have to prioritize treatment goals on the most disabling symptoms and the safest and most effective treatments. Almost every year newer medications and modes of delivery continue to be researched and added to the therapeutic armamentarium. This review article outlines existing and emerging pharmacotherapies for motor symptoms in PD.

Successful Utilization of Levodopa in HIV-Induced Parkinsonism.

We report a case of a 63-year-old African American female patient with a past medical history of treatment naïve human immunodeficiency virus (HIV). She was referred to our hospital with altered mental status and rigidity with a history of progressive ambulation difficulties and decreased verbal output over the previous months as reported by her son. Her clinical presentation and brain MRI were consistent with HIV encephalopathy with bilateral basal ganglia involvement and HIV-induced parkinsonism. We initiated a trial of carbidopa/levodopa along with highly active antiretroviral therapy (HAART) (emtricitabine-tenofovir and dolutegravir). In the following three weeks, she demonstrated dramatic improvement, both clinically and radiologically. She tolerated carbidopa/levodopa well with no behavioral or neurological side effects. This case illustrates the safe utilization of carbidopa/levodopa in treating parkinsonism in an adult female patient with HIV encephalopathy.

Multifactorial sleep disturbance in Parkinson's disease.

Parkinson's disease (PD) is the second most common neurodegenerative disorder, ranking only behind Alzheimer's disease and affecting 2% of the population over the age of 65. Pathophysiologically, PD is characterized by selective degeneration of the dopaminergic neurons of the substantia nigra pars compacta (SNpc) and striatal dopamine depletion. Patients may also exhibit mild-to-severe degeneration of other central and peripheral nervous tissues. The most dramatic symptoms of the disease are profound dopamine-responsive motor disturbances, including bradykinesia, akinesia, rigidity, resting tremor, and postural instability. PD patients commonly present with debilitating non-motor symptoms, including cognitive impairment, autonomic nervous system dysfunction, and sleep disturbance. Of these, sleep disturbance is the most consistently reported, and likely represents a disorder integrative of PD-related motor impairment, autonomic nervous system dysfunction, iatrogenic insult, and central neurodegeneration. The pathophysiology of PD may also indirectly disrupt sleep by increasing susceptibility to sleep disorders, including sleep disordered breathing, periodic limb movements, and REM behavior disorder. In this review, we will discuss these systems representing a multifactorial etiology in PD sleep disturbance.

Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.

Pelizaeus-Merzbacher-like disease is an autosomal recessive disorder characterized by neonatal nystagmus, ataxia, progressive spasticity, and development delay and is rarely caused by GJC2 mutations. We report 7 patients from a large consanguineous family who had variable severity of Pelizaeus-Merzbacher-like disease. The 3 youngest of branch A were bedridden by their first year because of permanent scissoring of their legs and had severe frontal lobe epilepsy. The single patient from branch B was the least affected, being able to walk until 12 years of age and had no epilepsy. Brain magnetic resonance imaging (MRI) showed hypomyelination. The patients had a novel canonical splicing GJC2 c.-20+1G>C mutation with a predicted loss of the coding connexin 47 protein. The exceptionally large number of patients in this unique family enabled to describe the intrafamilial variability of Pelizaeus-Merzbacher-like disease. The predicted functional loss of connexin 47 might be associated with a severe form of Pelizaeus-Merzbacher-like disease.

Alzheimer's disease presenting as corticobasal syndrome.

A 60-year-old man presented with slowly progressive left hemi-Parkinsonism, left hand apraxia, myoclonus, dystonia, visuospatial disturbances, and alien limb phenomenon, resembling corticobasal syndrome. Eight years later, neuropathology revealed features of Alzheimer's disease, with asymmetrical (right more than left) cortical tau burden with image analysis. The videotaped clinical features, neuropsychological aspects, and neuropathological correlates are presented and discussed.

Clinical profile of myasthenia gravis in the Sultanate of Oman.

OBJECTIVE: Clinical study and follow up of myasthenia gravis patients in Oman. METHODS: Follow up of 50 consecutive myasthenia gravis patients referred to the Sultan Qaboos University Hospital, Oman for a median period of 3 years from 1997 to 2000. We based the diagnosis on the clinical picture, repetitive nerve stimulation tests and edrophonium test. We performed a computerized tomography scan of the chest and anti-acetylcholine receptor antibodies. We reviewed the results of immuno modulatory treatment including thymectomy and compared these with other studies. RESULTS: Of 50 patients, 6 had purely ocular myasthenia. Of the 44 with generalized myasthenia, 28 had bulbar involvement and 12 required ventilatory support. Eight out of 29 thymectomized patients had drug free remission after 2 years. There was worsening of myasthenic symptoms in only one out of 8 pregnancies and deliveries. CONCLUSION: Bulbar and ventilatory involvement are more common in our series as compared with western data. Pregnancy and delivery were well tolerated.

Clinical profile of myasthenia gravis in the Sultanate of Oman.

OBJECTIVE: Clinical study and follow up of myasthenia gravis patients in Oman. METHODS: Follow up of 50 consecutive myasthenia gravis patients referred to the Sultan Qaboos University Hospital, Oman for a median period of 3 years from 1997 to 2000. We based the diagnosis on the clinical picture, repetitive nerve stimulation tests and edrophonium test. We performed a computerized tomography scan of the chest and anti-acetylcholine receptor antibodies. We reviewed the results of immuno modulatory treatment including thymectomy and compared these with other studies RESULTS: Of 50 patients, 6 had purely ocular myasthenia. Of the 44 with generalized myasthenia, 28 had bulbar involvement and 12 required ventilatory support. Eight out of 29 thymectomized patients had drug free remission after 2 years. There was worsening of myasthenic symptoms in only one out of 8 pregnancies and deliveries. CONCLUSION: Bulbar and ventilatory involvement are more common in our series as compared with western data. Pregnancy and delivery were well tolerated.