White matter predicts functional connectivity in premanifest Huntington's disease.

Objectives: The distribution of pathology in neurodegenerative disease can be predicted by the organizational characteristics of white matter in healthy brains. However, we have very little evidence for the impact these pathological changes have on brain function. Understanding any such link between structure and function is critical for understanding how underlying brain pathology influences the progressive behavioral changes associated with neurodegeneration.

Autonomic Dysfunction in Early Parkinson's Disease: Results from the United Kingdom Tracking Parkinson's Study.

Background: Autonomic dysfunction is common in the later stages of Parkinson's disease (PD), but less is known about its presence and severity in early disease.

Objective: To analyze features of autonomic dysfunction in recent onset PD cases, and their relationship to motor severity, medication use, other nonmotor symptoms (NMS), and quality-of-life scores.

Methods: Detailed patient-reported symptoms of autonomic dysfunction were assessed in a multicenter cohort study in PD cases that had been diagnosed within the preceding 3.

The Parkinsonian Subthalamic Network: Measures of Power, Linear, and Non-linear Synchronization and their Relationship to L-DOPA Treatment and OFF State Motor Severity.

In this paper we investigated the dopaminergic modulation of neuronal interactions occurring in the subthalamic nucleus (STN) during Parkinson's disease (PD). We utilized linear measures of local and long range synchrony such as power and coherence, as well as Detrended Fluctuation Analysis for Phase Synchrony (DFA-PS)- a recently developed non-linear method that computes the extent of long tailed autocorrelations present in the phase interactions between two coupled signals. Through analysis of local field potentials (LFPs) taken from the STN we seek to determine changes in the neurodynamics that may underpin the pathophysiology of PD in a group of 12 patients who had undergone surgery for deep brain stimulation.

Mandarin functional MRI Language paradigms.

Objective: The objective of this study was to implement convenient, fast, and accurate Mandarin task paradigms for functional MRI, and to locate the Chinese language functional areas in frontal and temporal lobes.

Materials And Methods: Nineteen healthy Chinese volunteers participated in this study, which utilized a block design with four language tasks: auditory naming (AN), picture naming (PN), verbal fluency-character (VFC), and verbal fluency-letter (VFL). All functional images were preprocessed by SPM 8, followed by first- and second-level analyses and lateralization index calculation.

Pitfalls in genetic testing: the story of missed SCN1A mutations.

Background: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients.

Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series‎.

Neurodegeneration with brain iron accumulation (NBIA) mostly has its disease onset in childhood, adolescence, or early adulthood and usually presents with predominant bulbar and axial dystonia along with signs such as spasticity, indicating an involvement of additional neurological systems. Because of their early onset and presentation with a combination of dystonia plus other neurological symptoms, they are usually not considered as differential diagnosis for late-onset isolated (idiopathic) craniocervical dystonia. In this case series, we present 4 genetically proven cases of NBIA (including neuroferritinopathy, pantothenate-kinase-associated neurodegeneration, and aceruloplasminemia) with late disease onset, which resembled isolated adult-onset craniocervical dystonia at disease onset.

Rating Scales for Pain in Parkinson's Disease: Critique and Recommendations.

Background: We aimed at critically appraising the clinimetric properties of existing pain scales or questionnaires and to give recommendations for their use in Parkinson's disease (PD).

Methods: Clinimetric properties of pain scales used in PD were systematically evaluated. A scale was classified as 'recommended' if was used in PD, showed adequate clinimetric properties, and had been used by investigators other than the original developers; as 'suggested' if it was used in PD and fulfilled only one other criterion; and as 'listed' if it was used in PD but did not meet the other criteria.

Nocturia in Parkinson's Disease: Why Does It Occur and How to Manage?

Background: Nocturia is one of the commonest nonmotor symptoms in Parkinson's disease (PD) and has a significant impact on quality of life both for patients and their carers. There exists a relation between nocturia and poor sleep quality, falls, and institutionalization. Nocturia may manifest as a result of reduced functional bladder capacity or nocturnal polyuria; however, most often the cause is multifactorial.

Early Ataxia and Subsequent Parkinsonism: PLA2G6 Mutations Cause a Continuum Rather Than Three Discrete Phenotypes.

-associated neurodegeneration comprises a heterogeneous spectrum of age-related phenotypes, with three forms classically recognized, including infantile neuroaxonal dystrophy (INAD) with onset in infancy, atypical neuroaxonal dystrophy (atypical NAD) with onset in childhood, and dystonia-parkinsonism (PARK14) with onset in early adulthood. We describe 3 cases that challenge this view, discuss the related literature, and suggest that mutations cause a phenotypic continuum rather than three discrete phenotypes, further ensuing clinical implications.

Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies.

Background: Hereditary ataxias are a heterogeneous group of degenerative diseases of the cerebellum, brainstem, and spinal cord. They may present with isolated ataxia or with additional symptoms going beyond cerebellar deficits. There are an increasing number of clinical studies with the goal to define the natural history of these disorders, develop biomarkers, and investigate therapeutic interventions.

Nocturia in Patients With Parkinson's Disease.

Background: Waking up from sleep more than once to pass urine, known as nocturia, is an important nonmotor symptom in Parkinson's disease (PD). Very little is known about the cause for nocturia. The aim of this work was to evaluate lower urinary tract (LUT) symptoms in patients with PD reporting nocturia using standardized validated questionnaires and bladder diaries and to assess the impact of nocturia on quality of life and sleep.

Axial Dystonia Mimicking Stiff Person Syndrome.

Both isolated axial dystonia and stiff person syndrome (SPS) are rare conditions that can look deceivingly similar. Here, we present three cases of axial dystonia resembling SPS with video documentation in order to illustrate the phenomenological similarities. We discuss clinical and paraclinical approaches to help distinction with its obvious implications for further management.

Olfaction in Homozygous and Heterozygous SYNJ1 Arg258Gln Mutation Carriers.

Hyposmia is a common nonmotor symptom in Parkinson's disease (PD) and has been variably detected in monogenic parkinsonism. SYNJ1 has been recently identified as the gene defective in a novel form of autosomal-recessive, early-onset atypical parkinsonism, designed as PARK20. To assess olfaction in PARK20, we administered the University of Pennsylvania Smell Identification Test (UPSIT) in four groups of subjects: SYNJ1 homozygous (HOM = 3) and heterozygous (HET = 4); sporadic PD (PD = 68); and healthy control subjects (CTR = 61).

Nonmotor Symptoms in Dopa-Responsive Dystonia.

Background: Dopa-responsive dystonia (DRD) is a rare inherited dystonia, caused by an autosomal dominantly inherited defect in the gene that encodes guanosine triphosphate cyclohydrolase 1. It catalyzes the first and rate-limiting enzyme in the biosynthesis of tetrahydrobiopterin, which is the essential co-factor for aromatic amino acid hydroxylases. Mutation results in the typical scenario of a young-onset lower-limb dystonia with diurnal fluctuations, concurrent or subsequent development of parkinsonism and excellent response to levodopa.

Expanding the Phenotype and Genetic Defects Associated with the Gene.

Background: The homozygous missense mutation c.430G>T (p.G144W) in the gene has been repeatedly shown to cause progressive myoclonus epilepsy/ataxia.