case_images: PMC11012930_01
case_images: Time-evolution of the neurological signs presented by the first proband. Two time periods are considered, referring to 2011, age 19 (segments A) (no neuropharmacological treatment), and to 2023, age 31, at the last available follow-up (segment B, under chronic treatment with Gabapentin 300 mg daily). Captions are embedded into the video. On note, the presence of diffuse dystonic rapid movements with myoclonic features with axial (cranio-cervical and truncal) and limbs distribution (segment A), showing a significant reduction under gabaergic treatment (segment B).. The neurological signs of Family 1 proband's mother are shown (referring to 2023, age 69): this lady displays fragmented pursuits, with increased latency and mild slowing of saccades. Dysarthria is not present. As demonstrated by the patient reciting the Italian sentence "Oggi e una bella giornata di sole" ("Today is a beautiful day") and the Italian numbers 1 to 10: "uno, due, tre, quattro, cinque, sei, sette, otto, nove, dieci". Slight dysmetria and tremor in upper limbs, moderate dysmetria in lower limbs, and a mildly broad-based and slowed gait with some difficulties in turning but without support, are shown. On note, lower limbs action dystonia activated by the gait is shown: lower limbs dystonic features do not occur while patient standing or walking backward. The tightrope walking is difficult, mainly due to the activation of lower limbs action dystonia with myoclonic features. The feet-together stance is maintained with mild oscillations; Romberg sign is positive. Captions are embedded into the video.. Neurological assessment of the second proband. In the first segment, severe cerebellar dysarthria, cerebellar ataxia with adiadochokinesia and hypermetria on finger-to-finger test, and bilateral hand dystonia are observed. Oculomotor abnormalities including square wave jerks and oculomotor apraxia are evident. The second segment shows a very profound and unstable ataxic gait with a broad base and irregular steps. Dystonia of the left leg can also be seen.
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case_images: PMC11012930_01_.jpg
case_images: V1
case_images: Notably, his brain magnetic resonance imaging (MRI) was also normal, showing no signs of cerebellar, basal ganglia, hippocampus, or brainstem atrophy (Figure 1, Panels 1 and 2). Interestingly, the drug appeared to effectively and stably reduce the patient's symptoms from generalized to mainly mild cervical-truncal myoclonic dystonia (Video 1, segment B; Figure 1, Panel 3). Mini Mental State Examination score was 22.9/30. MRI showed the presence of cerebellar atrophy (Figure 2, Panel 1) and mild reduction in hippocampal volume (Figure 2, Panel 2).
case_images: Normality of Brain MRI of first family's proband, showing absence of cerebellar atrophy (panel 1) and absence of atrophy of the body of the hippocampus (panel 2). A moderate task-specific tremor of writing and drawing is documented (panel 3).
case_images: tohm-14-1-858-g1.jpg
case_images: PMC11012930_01_tohm-14-1-858-g1.jpg
case_images: F1
case_images: Notably, his brain magnetic resonance imaging (MRI) was also normal, showing no signs of cerebellar, basal ganglia, hippocampus, or brainstem atrophy (Figure 1, Panels 1 and 2). Mini Mental State Examination score was 22.9/30. MRI showed the presence of cerebellar atrophy (Figure 2, Panel 1) and mild reduction in hippocampal volume (Figure 2, Panel 2).
case_images: Panel 1. Brain MRI of the mother of the first family's proband, showing prominent cerebellar atrophy, especially in the vermis. (A-C) T1-weighted images centered on the cerebellum on sagittal (A), coronal (B) and axial (C) planes; D) sagittal T2-weighted image. Panel 2. MRI study showing moderate bilateral atrophy of the body of the hippocampus. (A, B) Axial images centered on the hippocampi on T1-weighted (A, D) and IR-w (B, C) images.
case_images: tohm-14-1-858-g2.jpg
case_images: PMC11012930_01_tohm-14-1-858-g2.jpg
case_images: F2
case_images: Interestingly, the drug appeared to effectively and stably reduce the patient's symptoms from generalized to mainly mild cervical-truncal myoclonic dystonia (Video 1, segment B; Figure 1, Panel 3).
case_images: PMC11012930_02