Parkinson's Plus Syndrome

BACKGROUND: Parkinson's disease (PD) is a condition that affects movement and is usually seen in those over the age of 50. It is caused by the death of dopaminergic neurons, particularly in the substantia nigra. PD has shifted from being perceived as an uncommon condition to a significant neurological illness, mostly due to the increasing number of elderly individuals and the impact of environmental factors. Parkinson's plus syndromes, such as progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and vascular Parkinsonism (VaP), provide difficulties in distinguishing them clinically from PD since they have similar characteristics...

Tremor dominant Parkinson's disease (TDPD) and essential tremor plus (ETP) syndrome are commonly encountered tremor dominant neurological disorders. Although the basal ganglia thalamocortical (BGTC) and cerebello thalamocortical (CTC) networks are implicated in tremorogenesis, the extent of functional connectivity alterations across disorders is uncertain. This study aims to evaluate functional connectivity of the BGTC and CTC in TDPD and ETP. Resting state functional MRI was acquired for 25 patients with TDPD, ETP and 22 healthy controls (HC)...

Extended wrist rotation provides a simple clinical measure of rigidity in movement disorders. The supinator-pronator muscles of the forearm form an agonist-antagonist pair that can be isolated for diagnosis and monitoring. Patients rarely can isolate these muscles without extraordinary training and body awareness. Clinicians may find documenting the impact of the shoulder girdle, wrist, and hand movements overburdensome. A preliminary study shows that restricting the olecranon and keeping the wrist in line with the hand can provide a simple, reproducible measure of rigidity...

INTRODUCTION: MRI-guided focused ultrasound (FUS) is an incisionless thermo-ablative procedure that may be used to treat medication-refractory movement disorders, with a growing number of potential anatomic targets and clinical applications. As of this article's publication, the only US Food and Drug Administration (FDA)-approved uses of FUS for movement disorders are thalamotomy for essential tremor (ET) and tremor-dominant Parkinson's Disease (PD), and pallidotomy for other cardinal symptoms of PD...

Lysosomal dysfunction plays an important role in neurodegenerative diseases, including Parkinson's disease (PD) and possibly also Parkinson-plus syndromes such as progressive supranuclear palsy (PSP). This is exemplified by the involvement of the GBA1 gene, which results in a deficiency of the lysosomal enzyme glucocerebrosidase, and is currently the most frequently identified genetic factor underlying PD worldwide. Pathogenic variants in the SMPD1 gene are a recessive cause of Niemann-Pick disease type A and B...

BACKGROUND: ATP13A2 is a monogenic causative gene of Parkinson's disease, whose biallelic mutations can result in Kufor-Rakeb syndrome. Biallelic mutations in ATP13A2 have also been reported in pure or complicated hereditary spastic paraplegia (HSP). Here, we report clinical, neuroimaging, and genetic findings from a patient with a novel homozygous mutation in ATP13A2 presenting with HSP plus parkinsonism. METHODS: Whole genome sequencing was performed on the patient, a 46-year-old Chinese woman from a consanguineous family, to identify the genetic cause...

Parkinsonian syndromes are a heterogeneous group of progressive neurodegenerative disorders involving the nigrostriatal dopaminergic pathway and are characterized by a wide spectrum of motor and nonmotor symptoms. These syndromes are quite common and can profoundly impact the lives of patients and their families. In addition to classic Parkinson disease, parkinsonian syndromes include multiple additional disorders known collectively as Parkinson-plus syndromes or atypical parkinsonism. These are characterized by the classic parkinsonian motor symptoms with additional distinguishing clinical features...

BACKGROUND: Tremors other than those associated with Parkinson's disease (non-parkinsonian tremor) are commonly observed in clinical settings. However, their frequency and clinical characteristics have rarely been reported. OBJECTIVES: To classify non-parkinsonian tremors based on the consensus statement on the classification of tremors, from the task force of the International Parkinson and Movement Disorder Society published in 2018. METHODS: A prospective registry at a tertiary care teaching institute...

Atypical Parkinsonian syndromes are a subset of progressive neurodegenerative disorders that present with signs of Parkinson's disease. However, due to multisystem degeneration, the atypical Parkinsonian syndromes have additional symptoms that are often referred to as Parkinson-plus syndromes. The most well-studied subsets include progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and Lewy body dementia. Specifically, progressive supranuclear palsy is a tauopathy neurodegenerative disorder that presents with parkinsonism symptoms along with postural instability, vertical saccade, and vertical gaze palsy...

While Parkinson's disease remains clinically defined by cardinal motor symptoms resulting from nigrostriatal degeneration, it is now appreciated that Parkinson's disease commonly consists of multiple pathologies, but it is unclear where these co-pathologies occur early in disease and whether they are responsible for the nigrostriatal degeneration. For the past number of years, we have been studying a well-characterized cohort of subjects with motor impairment that we have termed mild motor deficits. Motor deficits were determined on a modified and validated Unified Parkinson's Disease Rating Scale III, but were insufficient in degree to diagnose Parkinson's disease...

BACKGROUND: Betahistine was registered in Europe in the 1970s and approved in more than 80 countries as a first-line treatment for Menière's disease. It has been administered to more than 150 million patients. However, according to a Cochrane systematic review of betahistine and recent meta-analyses, there is insufficient evidence to say whether betahistine has any effect in the currently approved dosages of up to 48 mg/d. A combination with the monoamine oxidase B (MAO-B) inhibitor, selegiline, may increase the bioavailability of betahistine to levels similar to the well-established combination of L-DOPA with carbidopa or benserazide in the treatment of Parkinson's disease...

KEY CLINICAL MESSAGE: Progressive supranuclear palsy (PSP) has many clinical features overlapping with other Parkinson syndromes and differentiation on clinical ground is difficult. This case highlights how a brain MRI can help diagnose PSP in settings with limited resources where histological diagnosis is difficult. ABSTRACT: Progressive supranuclear palsy (PSP) may be challenging to diagnose due to its widely acknowledged clinical complexity and challenges with diagnosis confirmation, particularly in resource-poor settings where the ability to obtain confirmatory tests is highly complicated, leading to an inaccurate or incomplete diagnosis of PSP...

OBJECTIVES: This study aims at a fully automatic pipeline for measuring the magnetic resonance parkinsonism index (MRPI) using deep learning methods. METHODS: MRPI is defined as the product of the pons area to the midbrain area ratio and the middle cerebellar peduncle (MCP) width to the superior cerebellar peduncle (SCP) width ratio. In our proposed pipeline, we first used nnUNet to segment the brainstem and then employed HRNet to identify two key boundary points so as to sub-divide the whole brainstem into midbrain and pons...

We present the case of a 54-year-old male, without any significant medical history, who insidiously developed speech disturbances and walking difficulties, accompanied by backward falls. The symptoms progressively worsened over time. The patient was initially diagnosed with Parkinson's disease; however, he failed to respond to standard therapy with Levodopa. He came to our attention for worsening postural instability and binocular diplopia. A neurological exam was highly suggestive of a Parkinson-plus disease, most likely progressive supranuclear gaze palsy...

There is a pressing need to understand the factors that predict prognosis in progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS), with high heterogeneity over the poor average survival. We test the hypothesis that the magnitude and distribution of connectivity changes in PSP and CBS predict the rate of progression and survival time, using datasets from the Cambridge Centre for Parkinson-plus and the UK National PSP Research Network (PROSPECT-MR). Resting-state functional MRI images were available from 146 participants with PSP, 82 participants with CBS, and 90 healthy controls...

PURPOSE: 123 I-metaiodobenzylguanidine (MIBG) cardiac scintigraphy was a useful imaging modality for the diagnosis of Parkinson's disease, but its diagnostic performances were variably reported. This retrospective study compared the diagnostic performances and investigated the optimal imaging protocol of 123 I-MIBG cardiac scintigraphy at various imaging time points in patients suspected of Parkinson's disease in clinical practice. METHODS: In patients suspected of Parkinson's disease, clinical records, autonomic function tests, and 123 I-MIBG cardiac scintigraphy were retrospectively reviewed...

BACKGROUND: Amplitude-based exercise training has been shown to be effective in the motor performance of individuals with idiopathic Parkinson's disease, with limited research investigating its effects on Parkinson plus syndromes such as olivopontocerebellar atrophy (OPCA). The purpose of this clinical case report is to examine the effects of amplitude-based training exercises on an individual with OPCA. CASE DESCRIPTION: A 68-year-old man with a 14-month history of OPCA presented to physical therapy with bradykinesia, rigidity, and postural instability...

Paul Blocq (1860-1896) and his teacher Jean-Martin Charcot (1825-1893) introduced the expression "astasia-abasia" into medical terminology in 1888 to designate a pathology they believed to be caused by hysteria. This condition makes it impossible to remain erect and to walk, whereas the ability to move the legs while lying down remains normal. At the turn of the 20th century, and now almost exclusively, this motor disturbance is recognised as a syndrome with multiple possible organic causes, and now described as "higher-level gait disorder"...

Verbal fluency is widely used as a clinical test, but its utility in differentiating between neurodegenerative dementias and progressive aphasias, and from healthy controls, remains unclear. We assessed whether various measures of fluency performance could differentiate between Alzheimer's disease, behavioural variant of frontotemporal dementia, non-fluent and semantic variants of primary progressive aphasia, progressive supranuclear palsy, corticobasal syndrome and healthy controls. Category and letter fluency tasks were administered to 33 controls and 139 patients at their baseline clinical visit...

Automated segmentation and volumetry of brain magnetic resonance imaging (MRI) scans are essential for the diagnosis of Parkinson's disease (PD) and Parkinson's plus syndromes (P-plus). To enhance the diagnostic performance, we adopt deep learning (DL) models in brain MRI segmentation and compared their performance with the gold-standard non-DL method. We collected brain MRI scans of healthy controls ([Formula: see text]) and patients with PD ([Formula: see text]), multiple systemic atrophy ([Formula: see text]), and progressive supranuclear palsy ([Formula: see text]) at Samsung Medical Center from January 2017 to December 2020...