# Impact of Cognition on Balance and Gait Markers for FXTAS

> **NIH NIH K01** · RUSH UNIVERSITY MEDICAL CENTER · 2020 · $128,408

## Abstract

Abstract:
 The primary objective of this K01 application is to provide research training and mentorship to the candidate
to enable her to become an independent medical rehabilitation researcher. The candidate has clinical
experience in Physical Therapy and doctoral training in basic neurobiology and is transitioning to a new clinical
research area investigating balance and gait in a neurodegenerative disorder called Fragile X Tremor and
Ataxia Syndrome (FXTAS) which occurs in some premutation (PM) carriers of the Fragile X (FMR1) gene. The
short term goals are to develop an early detection model for FXTAS and identify additional molecular risk
factors for developing this disorder. The plan has 3 aims: 1) To identify quantitative markers of balance and
gait impairments in PM carriers with and without FXTAS, 2) To determine the impact of executive function and
cognitive interference on balance and gait function in PM carriers with and without FXTAS, and 3) to determine
the relationship between age, sex, executive function, and FMR1 molecular variables and the presence and
severity of balance and gait impairment in PM carriers with and without FXTAS. The candidate’s long term
scientific goal is to become a leading independent research scientist in movement neuroscience and
neurological disorders and in the precise identification of balance and gait dysfunction in FXTAS from the
earliest stage. In order to reach these goals the candidate needs to develop expertise in patient outcomes and
neuroepidemiology research. The candidate’s short term goals which form the basis for this five year K
development plan include training in 1) large scale subject recruitment, data management and advanced
biostatistics, 2) balance and gait analysis and application to clinical trials in movement disorders, 3) design,
implementation and analysis of large scale epidemiological studies and 4) introduction to rehabilitation
intervention and clinical trial research methodology. Results of this research will help clarify neurological
mechanisms underlying balance and gait deficits in FXTAS, establish reliable and quantitative outcomes
measures of motor impairment, and provide data for future clinical rehabilitation trials. This research will be the
first step in characterizing the longitudinal history of motor dysfunction in FXTAS from its earliest stages, thus
paving the way for establishing disease monitoring and modifying strategies in premutation carriers. This
proposal is relevant to the NIH Research Plan on FXS and Associated Disorders which includes the
following goals: 2.2 validation of quantitative instruments to detect early clinical signs of FXTAS and its
progression, 2.3 identification of molecular and clinical risk factors in individuals associated with penetrance of
FXTAS, and 2.5 defining genotype, including FMR1 molecular factors, and clinical phenotype relationships in
FXTAS.

## Key facts

- **NIH application ID:** 9963329
- **Project number:** 5K01HD088762-05
- **Recipient organization:** RUSH UNIVERSITY MEDICAL CENTER
- **Principal Investigator:** Joan A O'Keefe
- **Activity code:** K01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $128,408
- **Award type:** 5
- **Project period:** 2016-07-07 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9963329

## Citation

> US National Institutes of Health, RePORTER application 9963329, Impact of Cognition on Balance and Gait Markers for FXTAS (5K01HD088762-05). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9963329. Licensed CC0.

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