The cerebellar bioenergetic state predicts treatment response in COQ8A-related ataxia.

INTRODUCTION: Primary coenzyme Q10 (CoQ10) deficiency, a recessive disorder associated with various defects of CoQ10 biosynthesis and widely varying clinical presentation, is customarily managed by oral Q10 supplementation but the benefit is debated. METHODS: To address this question, we mapped individual responses in two patients with COQ8A-related ataxia following coenzyme Q10 supplementation using noninvasive imaging. Metabolic 31phosphorus magnetic resonance spectroscopy imaging (31P-MRSI) and volumetric cerebellar neuroimaging were performed to quantify the individual treatment response in two patients with COQ8A-related ataxia, each compared with eight age- and gender-matched healthy control subjects. RESULTS: Post-treatment change in energy metabolite levels differed in the two patients, with higher energy levels and improved dysarthria and leg coordination in one, and decreased energy levels without clinical benefit in the other. CONCLUSIONS: Our results suggest that the cerebellar bioenergetic state may predict treatment response in COQ8A-related ataxia and highlight the potential of pathophysiology-orientated neuroimaging evidence to inform treatment decisions.

[Slowly progressive dysarthria in primary lateral sclerosis]. / Langsam progressive Dysarthrophonie bei primärer Lateralsklerose.

Slowly progressive dysarthria over many years may be the only sign of primary lateral sclerosis (PLS). Clinically it presents as pseudobulbar palsy which can be differentiated from amyotrophic lateral sclerosis (ALS) by the longer disease duration (> or =4 years), central pathological magnetic-evoked potentials to the tongue and lack of denervation in EMG. In contrast, hereditary spastic paraplegia (HSP) is characterized by a primary spasticity of the lower limbs, mostly later onset, the fact that other family members are affected and in isolated cases by positive genetic testing for mutations.

[Central positional vertigo due to cerebellar nodular infarction]. / Lagerungsschwindel bei zerebellärem Nodulusinfarkt.

Nodular infarctions are a rare cause of vertigo and may imitate vestibular neuritis. We report on two patients with acute positional vertigo due to nodular infarction, a clinical presentation is not reported so far. High-resolution MR imaging using thin slices is required to identify isolated nodular infarctions.

[Neurolymphomatosis. Subacute sensorimotor polyneuropathy as a first sign of non-Hodgkin's B cell lymphoma]. / Neurolymphomatose. Subakute sensomotorische Polyneuropathie als Erstmanifestation eines Non-Hodgkin-B-Zell-Lymphoms.

We report on a 65-year-old patient with subacute painful sensorimotor polyneuropathy with distal leg muscle palsy and initially presenting with bilateral leg edema. Electrophysiologic testing showed an axonal lesion pattern with acute denervation. Nerve biopsy demonstrated neurolymphomatosis as an initial manifestation of a non-Hodgkin's B cell lymphoma.