Dynamic gait stability in people with mild to moderate Parkinson's disease.

Background: Falls are a serious health threat for people with Parkinson's disease. Dynamic gait stability has been associated with fall risk. Developing effective fall prevention interventions requires a sound understanding of how Parkinson's disease affects dynamic gait stability.

Adaptation to repeated gait-slip perturbations among individuals with multiple sclerosis.

Background: Perturbation training, built upon motor adaptation and learning, has been increasingly used as a fall prevention paradigm in older adults. This training paradigm involves repeated externally-induced perturbations (like slips) to facilitate the error-driven learning of necessary motor skills for preventing falls. It remains unknown if people with multiple sclerosis can adapt to large-scale slip perturbations, which impedes the application of perturbation training in persons with multiple sclerosis.

Relative importance of physical and psychological factors to slowness in people with mild to moderate multiple sclerosis.

Background: Mobility impairment is common in people with multiple sclerosis (MS). Gait speed has shown strong correlations with other mobility measures in MS. The purpose of this study was to assess the relative importance of a battery of factors in determining gait speed among people with MS.

Timing of diagnosis of 47,XXY and 48,XXYY: a survey of parent experiences.

47,XXY/Klinefelter syndrome is the most common sex chromosomal aneuploidy, yet 64% of males with this condition go undiagnosed. 48,XXYY is less common and there is less known about the diagnosis. The objective of this study is to describe the diagnosis experiences of parents of males with 47,XXY and 48,XXYY.

Olfactory dysfunction in fragile X tremor ataxia syndrome.

Introduction: We investigated olfactory defects in fragile X-associated tremor/ataxia syndrome (FXTAS), a finding reported on in other neurodegenerative disorders with clinical features that overlap those of FXTAS.

Methods: We measured olfactory identification capacity in 41 FMR1 premutation carriers and 42 controls using the University of Pennsylvania Smell Identification Test (UPSIT). Carriers received neurologic evaluations using motor rating scales for tremor, ataxia, and parkinsonism.

New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS).

The objective of this paper was to assess the phenotypic variance in patients with the Fragile X-associated Tremor Ataxia Syndrome (FXTAS) and to further elucidate genotype-phenotype correlations in the illness. A second goal was to generate hypotheses regarding symptom progression based on careful histories in our sample that can now be tested in ongoing longitudinal studies. The variability of clinical signs and symptom progression in FXTAS complicates our understanding of its phenotype and presents a series of problems in clinical trial design.