Dystonia associated with hyperintense basal ganglia lesions on T1-weighted brain MRI

✍ Scribed by Martin Wolz; Susann Junghanns; Matthias Löhle; Rüdiger von Kummer; Alexander Storch

• Publisher: John Wiley and Sons
• Year: 2008
• Tongue: English
• Weight: 378 KB
• Volume: 23
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.22128

✦ Synopsis

Disease Causing Hereditary Late-Onset Ataxia with Only Minimal White Matter Changes: A Report of Two Sibs ataxia. Additional-yet not obligate-clinical features (palatal tremor, kyphoscoliosis) and more or less distinctive MRI findings (subtle white matter changes, marked atrophy of brainstem, and spinal cord) might constitute clues that hint towards this specific diagnosis.

LEGENDS TO THE VIDEO

Segment 1. Mild ataxic and bouncing gait; note the flexion contractures of the knees; difficulty tandem walking.

Segment 2. Bent-hip and bent-knee posture. Segment 3. Ocular pursuit showing jerky pursuit movements.

Segment 4. Horizontal saccades showing multi-step saccades and ocular dysmetria (both hypometric and hypermetric).

Segment 5. Cerebellar dysarthria on repeating the Dutch sentence ''rode ronde appels rollen van de zoldertrap'' and on repeating ''PATAKA.'' Segment 6. Mild decomposition of movement during finger-to-nose testing.