SAN ANTONIO, Sept. 2, 2026 – For A. Campbell Sullivan, PsyD, this time it’s personal.
As a neuropsychologist and clinical associate professor of neurology at the Glenn Biggs Institute for Alzheimer’s and Neurodegenerative Diseases at UT Health San Antonio , she’s on the front lines daily of groundbreaking research and patient care in frontotemporal dementia and other neurodegenerative disorders.
But it wasn’t until she encountered signals of inherited dementia in her own family that she discovered a revelatory gap between treatment of the disorders and rapidly accelerating breakthroughs in research intended to advance patient care.
When she noticed her Aunt Grace in her late 50s dragging a foot when she walked, and showing behavioral changes, she talked her into visiting a hometown neurologist – who advised her simply to get a pair of sturdier cowboy boots. Not satisfied, and as her aunt’s symptoms progressed, Sullivan had her in for a comprehensive evaluation at the Glenn Biggs Institute.
Turned out Grace had familial, or inherited, amyotrophic lateral sclerosis, better known as ALS or Lou Gehrig’s disease, along with frontotemporal dementia (FTD), a neurodegenerative disorder affecting personality or behavior, speech or language, and movement, and the leading cause of dementia for those under age 65.
“For years I had studied these diseases through the lens of clinical cohorts, research protocols and diagnostic criteria. Watching them unfold within my own family changed how I understood the urgency of building systems that support the people who live with this knowledge every day,” Sullivan writes, in a compelling first-person narrative.
The article was published this summer in the journal npj Dementia , part of the Nature Portfolio by Springer Nature, titled, “ When ALS-FTD comes home: lessons from a TARDBP family for presymptomatic detection and care .”
TARDBP refers to a gene that provides instructions for making a protein called TDP-43, which helps cells process genetic blueprints and manage RNA that carries out those instructions stored in DNA. Changes or mutations in the TARDBP gene are linked to neurodegenerative conditions like ALS or FTD.
Sullivan recounts her family’s experience from her perspective as a board-certified clinical neuropsychologist specializing in FTD and related disorders, managing the multidisciplinary FTD clinic and serving as the lead neuropsychologist for the ALS Association-certified Center of Excellence, both at the Glenn Biggs Institute.
She also is principal investigator for the Clinical Core of the South Texas Alzheimer’s Disease Research Center (ADRC) and site principal investigator for the national ALLFTD research consortium, a multi-site study designed to understand the causes and progression of frontotemporal degeneration.
For most of her career, she had helped other families navigate these diseases. And then, “My own family joined them,” she writes.
Recognizing the symptoms
Her family story starts well before her aunt’s case when she started noticing her father’s behavior and mobility decline in his early 60s. Throughout his life, he could be rigid and formal, but also irreverent and provocative, especially with his humor. But his statements and behavior “started crossing the line” and he showed more difficulty lifting one foot, she writes.
A short period later, he suddenly passed away without ever receiving a formal neurological diagnosis, his behavioral and motor changes remaining an unanswered question.
Then about five years ago, Grace, her father’s youngest sister, started showing similar symptoms. Like her brother, she also could be provocative, but Sullivan thought she was becoming even more “disinhibited,” and walked with a cane for her noticeable foot drop. Her aunt blamed complications from ankle surgery for her foot problem.
After the unsatisfactory neurologist visit, Sullivan brought Grace to the Glenn Biggs Institute, with its clinicians and researchers who focus on rare neurodegenerative diseases. That network provides access to multidisciplinary expertise that is not always available in routine clinical practice.
Neuropsychological testing on her aunt revealed broad executive dysfunction. Neurological examination demonstrated weakness and fasciculations, or small, involuntary muscle twitches or contractions visible under the skin. Electromyography showed evidence of denervation.
And genetic testing ultimately revealed a pathogenic mutation in the TARDBP gene, and she was diagnosed with familial, or inherited, ALS with FTD.
Not keeping up with the science
In her article, Sullivan notes that advances in genetics and biomarker discovery are transforming research and care in ALS and FTD, and that increasingly, investigators and clinicians can identify individuals at risk for disease years before symptoms appear. Those advances are essential for prevention trials and the development of targeted therapies, she writes.
However, she argues, the clinical infrastructure needed to support individuals and families living with genetic risk has not kept pace with the science. In particular, she says, those individuals and families need guidance regarding genetic testing, life planning, caregiver support and options for longitudinal or long-term monitoring.
If not for the multidisciplinary expertise and research at the Glenn Biggs Institute, her aunt’s diagnosis would have remained unexplained.
“My family’s recent experience with TARDBP-associated ALS-FTD illustrates the gap between scientific progress and the systems available to support those living with inherited neurodegenerative disease. This gap will continue to widen as early detection capabilities accelerate,” she warns.
“Rare diagnoses like these so often remain unclear or misattributed, like in my father’s case, leaving families with missed opportunity for informed life planning and early interventions and opening the possibility of misdirection of medical care.”
Convincing the family
While explaining genetic diagnoses is part of her daily clinical work, she notes, explaining her aunt’s diagnosis to her own family was very different. Some members questioned its accuracy; others attempted to attribute the symptoms to aging or other medical problems.
“A few did not take kindly to being told by someone they had known since childhood that they might be at risk for a familial neurodegenerative disease,” she writes.
However, several family members did choose to pursue genetic testing – including Sullivan, and her aunt’s children. Before doing so, they arranged for long-term care insurance and met with genetic counselors, something many don’t contemplate until much later in life. Her cousins were only in their 20s at the time.
Remarkably, all of their results were negative. Other relatives chose not to pursue testing.
Before her death, Sullivan’s aunt chose to donate her brain to the Brain Bank at the Glenn Biggs Institute. While there have been major advances in genetics and imaging, she explains, brain donation remains the “gold standard” for confirming TDP-43 protein disease, and linking clinical symptoms to underlying disease mechanisms.
Still, she says, researchers now are working to develop biomarkers capable of detecting TDP-43 pathology during life using blood or cerebrospinal fluid, which could dramatically improve diagnosis and enable targeted drug trials.
“Watching my aunt make that decision was profoundly meaningful for our family,” Sullivan writes. “Her final act ensures that her experience will contribute to the research needed to detect these diseases earlier, develop effective therapies and build clinical programs that support families confronting inherited neurodegenerative disease.”
Scientific journal research papers and articles typically close with an “Acknowledgments” section. For this one, Sullivan’s starts, simply, “To my family.”
For more on what Sullivan sees is needed to close gaps to align scientific advances with programs supporting individuals and families at risk for inherited neurodegenerative disease, as well as more on the science of TARDBP and TDP-43, read her full account here , or from below.
When ALS-FTD comes home: lessons from a TARDBP family for presymptomatic detection and care
A. Campbell Sullivan
Published July 15, 2026, in npj Dementia
Link to full article: https://www.nature.com/articles/s44400-026-00132-5
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The Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases at UT Health San Antonio is dedicated to providing comprehensive dementia care while advancing treatment through clinical trials and research. The Biggs Institute is a National Institute on Aging (NIA)-designated Alzheimer’s Disease Research Center (ADRC). UT Health San Antonio is the academic health center of The University of Texas at San Antonio (UT San Antonio). In addition to providing patient care and conducting research, the Biggs Institute partners with the School of Nursing at UT San Antonio to offer the Caring for the Caregiver program.
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npj Dementia
When ALS-FTD comes home: lessons from a TARDBP family for presymptomatic detection and care
15-Jul-2026