We recently participated in an interesting publication on a case of parkinsonism and dystonia in a patient with 18p Chromosomal Deletion encompassing the GNAL gene.
This is the result of great teamwork with esteemed colleagues from Azienda Ospedaliero-Universitaria of Modena, Azienda USL-IRCCS of Reggio Emilia, University of Milano, and CENTOGENE GmbH of Rostock (Germany).
New publication
The paper describes the case of a 55-year-old man exhibiting slowness of movement and unilateral rigidity, with abnormal posture of the upper limb. While Levodopa treatment improved motor symptoms, particularly rigidity, dystonia and dysarthric pattern remained unaffected.
Instrumental gait analysis was performed at the Laboratorio Analisi Movimento (LAM), where Eng. Andrea Merlo and Dr. Isabella Campanini work, and revealed improvements after drug intake. The patient previously showed difficulties in increasing walking speed because of the rigidity. After Levodopa administration, the patient’s velocity successfully increased from 40% height/second to 72% h/s.
Full text can be found here.
Indications for the future
This is the first time this type of chromosomic anomaly has been reported with parkinsonism-related symptoms, along with dystonia. This unusual case may expand the clinical and pathological features associated with GNAL mutations to include dystonia-parkinsonism and dopaminergic denervation. Additional evidence is needed to confirm such a hypothesis.
This article is part of a series of publications resulting from the LAM’s collaboration with neighboring clinical institutions. We are proud that more and more physicians and rehabilitation experts are seeking cooperation with us, recognizing the potential and added value of instrumental movement analysis.
You can read news of other studies conducted together in the Posts section.
