Movement Disorders Associated With Radiotherapy and Surgical Procedures.

Occasionally, movement disorders can occur following interventional procedures including but not limited to radiotherapy, dental procedures, and cardiac, cerebral and spinal surgeries. The majority of these disorders tend to be unexpected sequelae with variable phenomenology and latency, and they can often be far more disabling than the primary disease for which the procedure was performed. Owing to poor knowledge and awareness of the problem, delays in diagnosing the condition are common, as are misdiagnoses as functional movement disorders. This narrative review discusses the phenomenology, pathophysiology, and potential treatments of various movement disorders caused by interventional procedures such as radiotherapy and neurological and non-neurological surgeries and procedures.

Clinical and Imaging Profile of Patients with Joubert Syndrome.

OBJECTIVE: Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS. METHODS: This was a retrospective chart review of patients with JS evaluated by movement disorder specialists. RESULTS: Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes. CONCLUSION: Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS.

Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum.

Synaptic nuclear envelope protein-1 (SYNE1) related cerebellar ataxia also called ARCA1 or SCAR8, manifests as a relatively pure cerebellar ataxia or with additional neurological involvement. Dystonia is rarely seen in SYNE1 ataxia and to the best of our knowledge, there are only three reports of dystonia in patients with SYNE1 ataxia. This report describes a 22-year-old woman with chronic progressive spastic-ataxia of 3-year duration with additional focal dystonia of the right upper limb. Patient had cerebellar atrophy on MRI brain and a novel pathogenic homozygous variant in exon 74 of the SYNE1 gene (p.Gln4047Ter).

Clinical and Imaging Profile of Patients with Palatal Tremor.

BACKGROUND: Palatal tremor (PT) is an uncommon movement disorder that may be classified into symptomatic (SPT) or essential (EPT). The etiology of SPT is varied, with involvement of the Guillain-Mollaret triangle (GMT) and inferior olivary hypertrophy. EPT is associated with ear clicks and normal imaging and may have a functional basis. OBJECTIVES: This study aims to explore the clinical and radiological features of a large cohort of patients with PT. METHODS: This is a retrospective chart review of patients with PT who were evaluated by the movement disorders subspeciality of the neurology department. Demographic, clinical, and imaging details of patients with PT were documented. RESULTS: A total of 22 patients with PT comprising 17 with SPT and 5 with EPT were included in this study. No patient was aware of the PT. Ear clicks were reported in 2 patients with SPT and in 3 patients with EPT. The most common etiology for SPT was vascular, followed by degenerative conditions. Patients with SPT had associated features such as tremor (70.6%), ataxia (64.7%), dystonia (52.9%), myoclonus (17.6%), and eye movement abnormalities (75%). Lesions involving the GMT were found in 82% of patients with SPT. Apart from PT, patients with EPT had no other motor symptoms, and imaging was normal. Of the patients with EPT, 2 had additional functional movement disorders. CONCLUSION: PT has significant etiological heterogeneity and can be easily missed because of the lack of awareness by patients. Involvement of the inferior olivary nucleus may not be necessarily observed. A functional etiology should be considered in cases of EPT.

Cervical Myeloradiculopathy and Atlantoaxial Instability in Cervical Dystonia.

OBJECTIVE: Atlantoaxial instability, although rarely reported in the literature, can be associated with cervical dystonia (CD) and may lead to compression of the cord at the craniovertebral junction. We present a case series of 4 patients of longstanding CD with neurologic complications. Treatment strategies and challenges are discussed. METHODS: Retrospective analysis of 4 cases of longstanding CD with complications of myelopathy or radiculopathy. RESULTS: The average age at onset of complications was 28 years (range, 17-37). The average duration of CD was 23.75 years. Narrowing of the craniovertebral junction was seen in 3 patients, of which 2 had os odontoideum, and 1 had rotational malalignment at the atlantoaxial joint. One patient had disc desiccation with bulge and intramedullary signal changes in the cord at C3-4 level. Medical treatment was not satisfactory, but botulinum toxin was partly useful in all. One patient had sequelae of myelopathy and did recover partially after deep brain stimulation. Of the 2 patients who underwent surgical fixation with a fusion of the spine, one improved, and the other had no improvement due to irreversible cord damage. The overall outcome was satisfactory only in 2 patients. CONCLUSIONS: Early-onset CD can lead to cord complications at a young age and at higher levels of the cervical spine and at the cervicovertebral junction. Comprehensive management by a multidisciplinary team is crucial to prevent complications early.

Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis?

Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.

Impact of Prolonged Lockdown due to COVID-19 in Patients with Parkinson's Disease.

BACKGROUND: The COVID-19 pandemic has compelled countries to impose lockdowns to curb the spread. As a result of the lockdown and need for health care services to cater to acute diseases on priority, patients with chronic illnesses such as Parkinson's disease (PD) may be facing several difficulties. AIMS: This study aimed to explore the effects of prolongation of lockdown on patients with PD by evaluating possible problems faced during a lockdown and worsening of symptoms if any. MATERIALS AND METHODS: One hundred patients with PD and their caregivers were contacted. RESULTS: We observed a significant increase in problems faced due to this pandemic, specifically, the inability to access health care, and difficulty procuring medication. Patients also reported worsening of motor symptoms. CONCLUSIONS: The present findings highlight the need for health care systems to consider a plan of action for chronic neurological diseases like PD, which are worsening in the absence of regular hospital visits.

Deep Brain Stimulation Battery Exhaustion during the COVID-19 Pandemic: Crisis within a Crisis.

OBJECTIVE: The novel coronavirus disease (COVID-19) pandemic and public health measures to control it have resulted in unique challenges in the management of patients with deep brain stimulation (DBS). We report our experience with the management of acute worsening of symptoms due to battery exhaustion in 3 patients with DBS. METHODS: Patients with DBS for movement disorders who visited the emergency room due to battery exhaustion during the nationwide lockdown from April to May 2020 were included. RESULTS: Two patients with subthalamic nucleus-DBS for Parkinson's disease (PD) and one with globus pallidus interna-DBS for generalized dystonia presented with acute worsening of symptoms due to battery exhaustion. Urgent battery replacement was performed in both patients with PD. The patient with generalized dystonia was managed with medication adjustment as he chose to defer battery replacement. CONCLUSION: DBS battery replacement can be an emergency. Decisions regarding DBS battery replacement should be individualized during this COVID-19 pandemic.