Striatal hyperechogenicity as an ultrasound imaging marker for prodromal X-linked dystonia-parkinsonism

Martje G Pauly, Cid Czarina E Diesta, Paulo Cataniag, Max Borsche, Henrike Hanssen, Jean Quint L Oropilla, Uwe Walter, Dirk Dressler, Shela Marie Algodon, Ana Westenberger, Christine Klein, Norbert Brüggemann · 2026

Read Striatal hyperechogenicity as an ultrasound imaging marker for prodromal X-linked dystonia-parkinsonism by Martje G Pauly, Cid Czarina E Diesta, Paulo Cataniag, Max Borsche, Henrike Hanssen, Jean Quint L Oropilla, Uwe Walter, Dirk Dressler, Shela Marie Algodon, Ana Westenberger, Christine Klein, Norbert Brüggemann (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13233847.txt.

Description

Martje G Pauly and colleagues published a 2026 neurology study testing a brain ultrasound marker for X-linked dystonia-parkinsonism, an inherited movement disorder with damage centered on the striatum. Transcranial sonography can reveal an unusually bright lentiform nucleus, a deep brain structure. The team scanned 138 people: 61 patients, 19 carriers without symptoms, and 58 healthy controls, and compared results with MRI volumes and genetic repeat counts.

The bright-nucleus sign appeared in eighty-one percent of patients and nearly half of symptom-free carriers, against twenty percent of controls. Carriers and patients showing the sign tended toward younger onset and carried more genetic repeats. The third ventricle was wider in patients, while another deep structure showed no size difference. The authors propose ultrasound as a cheap way to flag carriers nearing symptom onset.

Catalog record

CREATORMartje G Pauly, Cid Czarina E Diesta, Paulo Cataniag, Max Borsche, Henrike Hanssen, Jean Quint L Oropilla, Uwe Walter, Dirk Dressler, Shela Marie Algodon, Ana Westenberger, Christine Klein, Norbert Brüggemann
YEAR2026
COLLECTIONPAPERS
FORMATTXT
FILE SIZE34 KB
VERSION1.0
LICENSECC BY 4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/articles/PMC13233847

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