#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dylan Verden of KIF1A.ORG summarizes newly published KIF1A-related research and highlights progress in rare disease research and therapeutic development.

KIF1A-Related Research

Characteristics of Sensory Neuron Dysfunction in Amyotrophic Lateral Sclerosis (ALS): Potential for ALS Therapy

Overlap between KAND and other neurodevelopmental/neurodegenerative disorders has become a common theme at KIF1A.ORG, and something we think about often. After all, KAND was around before genetic testing became common, and individuals with spasticity, epilepsy, or intellectual disability could present as any number of diseases, including ALS. As genetic research and clinical diagnoses converge, the things we’ve learned in each field can inform one another.

What is KAND? Well, it’s complicated. At one level it’s a disorder caused by mutations in the KIF1A gene. At another it’s a neurodegenerative disorder in which neurons lose function over time. At the level of day-to-day lives, it could be trouble walking, epilepsy, vision loss, altered pain sensation or intellectual disability; the answer changes from patient to patient, and depending on the audience. Ignoring the heterogeneity would be a disservice to KAND patients impacted by less common symptoms.

The short-hand for ALS (amyotrophic lateral sclerosis) is a neurodegenerative disorder that causes progressive motor neuron degeneration. But focusing too much on motor neuron/muscle loss could leave blind spots to other symptoms. In this week’s review pre-print*, researchers describe sensory neuropathy (disrupted sensation of touch-based stimuli, including pain) as an understated symptom in ALS.

True to its name, a Review Article reviews recent scientific publications to highlight trends in research findings. The authors integrated information from several recent studies, including some we’ve recently covered, to describe sensory neuropathy in ALS. None of these individual articles focused specifically on sensory symptoms, which is why collecting the observations is so important for the advancement of science.

The studies compiled in this review investigated sensory neuropathy from multiple perspectives:

Clinical information:

  • Hypersensitivity, loss of touch sensation, and an altered sense of pain reported by ALS patients and clinicians
  • Observations of loss of sensory neurons from clinical studies
  • Changes in sensory areas of the brain
  • Prevalence of sensory symptoms in ALS patients with genetic mutations like KIF1A

Preclinical (cell and animal model) information:

  • Improper development of sensory circuits in mouse models of ALS
  • Dysfunction of neuronal biology (metabolism, oxidative stress, and neurodegeneration)
  • Dysfunction of glial cells that support sensory neurons

Because our sensory and motor systems rely on each other, the authors note that sensory neuropathy may accelerate symptoms and progression of motor neuron loss in ALS. Encouraging researchers and clinicians to take note of sensory issues is important for ALS patients, and may accelerate therapeutic development for sensory neuropathy symptoms in KAND.

*What’s a pre-print? Check out this #ScienceSaturday post to learn more

Rare Roundup

Emmery’s Story Part 2

Organizations like KIF1A.ORG would not exist if rare disease patients and their families hadn’t educated themselves to become experts in their own experiences. This week we highlight a recent blog post by Valerie Morris, mom of Emmery, in which she explores the science behind KAND and potential treatments in plain language. We’re so grateful to our engaged families and invite you to learn from them in their own words. Thank you Valerie!

KIF1A.ORG is at the Society for Neuroscience this week!

This week we’re excited to attend the annual Society for Neuroscience (SfN) conference this week. SfN is the world’s largest gathering of neuroscience researchers and clinicians, and we look forward to meeting with Research Network members and finding new opportunities to advance KAND research and treatment.

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