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Rare Research Report

Rare Research Report

Written by: RDCRN
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 Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.

Learn more about the RDCRN: https://www.rarediseasesnetwork.orgCopyright RDCRN Science
Episodes
  • BBDC: Assessing Temporomandibular Joints in Patients with Osteogenesis Imperfecta

    BBDC: Assessing Temporomandibular Joints in Patients with Osteogenesis Imperfecta
    Jan 28 2026
    New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Oral Surgery, Oral Medicine, Oral Pathology, and Oral Radiology on September 16, 2025, titled "Quantitative assessment of the temporomandibular joints in patients with osteogenesis imperfecta: a CBCT study."

    Read the paper here.

    Learn more about BBDC.

    Transcript:

    New research from the Brittle Bone Disorders Consortium (BBDC), a research group of the Rare Diseases Clinical Research Network.

    Assessing Temporomandibular Joints in Patients with Osteogenesis Imperfecta.

    This summary is based on a paper published in the journal Oral Surgery, Oral Medicine, Oral Pathology, and Oral Radiology on September 16, 2025.

    Osteogenesis imperfecta (OI) is a group of inherited connective tissue disorders associated with a wide range of symptoms, including fragile bones that break easily. Individuals with OI can experience problems with bone formation and function.

    In this study, researchers assessed temporomandibular joints—which connect the jawbone to the skull—in patients with OI. First, the team used cone-beam computed tomography (CBCT) to create 3D images of the temporomandibular joints of 48 OI patients and 48 age- and sex-matched controls. Next, they evaluated mandibular condylar volume and height.

    Results showed that individuals with OI had significantly reduced condylar volume and height. Authors note that these findings indicate impaired and delayed condylar development consistent with overall skeletal maturation delay in OI.
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    2 mins
  • SP-CERN: Evaluating Plasma Neurofilament Light Chain as a Biomarker for Hereditary Spastic Paraplegia-SPG11 and -ZFYVE26

    SP-CERN: Evaluating Plasma Neurofilament Light Chain as a Biomarker for Hereditary Spastic Paraplegia-SPG11 and -ZFYVE26
    Jan 28 2026
    New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Movement Disorders on December 9, 2025, titled "Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26)."

    Read the paper here.

    Learn more about SP-CERN.

    Transcript:

    New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN), a research group of the Rare Diseases Clinical Research Network.

    Evaluating Plasma Neurofilament Light Chain as a Biomarker for Hereditary Spastic Paraplegia-SPG11 and -ZFYVE26.

    This summary is based on a paper published in the journal Movement Disorders on December 9, 2025.

    Hereditary spastic paraplegia (HSP) is a large group of inherited disorders that affect nerves that send messages to the muscles. HSP-SPG11 and HSP-ZFYVE26 are autosomal-recessive forms of HSP, meaning that they are caused by two mutated copies of a gene. More information is needed about measurable signs of these disorders for new therapeutic trials.

    In this study, researchers evaluated plasma neurofilament light chain (pNfL) as a biomarker for HSP-SPG11 and HSP-ZFYVE26. The team analyzed pNfL levels in 57 patients with HSP, collecting clinical and biomarker data over five years.

    Results showed significantly elevated baseline pNfL levels in patients with HSP, reflecting early neuroaxonal injury. However, authors note that baseline pNfL did not help predict future disease progression.
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    2 mins
  • SP-CERN: Exploring the Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia

    SP-CERN: Exploring the Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia
    Jan 28 2026
    New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal Movement Disorders on December 2, 2025, titled "Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases."

    Read the paper here.

    Learn more about SP-CERN.

    Transcript:

    New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN), a research group of the Rare Diseases Clinical Research Network.

    Exploring the Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia.

    This summary is based on a paper published in the journal Movement Disorders on December 2, 2025.

    Hereditary spastic paraplegia (HSP) is a large group of inherited disorders that affect nerves that send messages to the muscles. Individuals with early-onset HSP can experience movement disorders, but not much is known about why and how often they occur.

    In this study, researchers explored the spectrum of movement disorders in early-onset HSP. The team analyzed data from 428 children and young adults with HSP, reviewing clinical characteristics and video examinations.

    Results showed that movement disorders—including dystonia, parkinsonism, and ataxia—were common in childhood-onset HSP. Authors note that routine screening and management tailored to specific genotypes of movement disorders—especially dystonia—may improve functional outcomes and quality of life.
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    2 mins
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