Waterskier’s Hirayama syndrome

Bede, Peter; Bokde, Arun L.W.; Byrne, Susan; Elamin, Marwa; Walsh, Ronan J.; Hardiman, Orla

doi:10.1007/s00415-011-6046-5

Cited by 11 publications

(7 citation statements)

References 6 publications

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“…Similar affected areas were observed in a study with diffusion-tensor MRI. 42 Our findings are consistent with previous PET studies in smaller samples, where metabolic abnormalities in the dorsolateral prefrontal cortex and anteromedial cingulate cortex were the most consistent findings. In C9orf72-negative ALS, permetabolism in the posterior areas, including the cerebellum, occipital cortex, brain stem, and mesial temporal, is also seen.…”

Section: Discussionsupporting

confidence: 94%

Value of¹⁸Fluorodeoxyglucose–Positron-Emission Tomography in Amyotrophic Lateral Sclerosis

et al. 2014

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IMPORTANCE Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder primarily affecting the motor system, with extramotor involvement to a variable extent. Biomarkers for early differential diagnosis and prognosis are needed. An autosomal dominant hexanucleotide (GGGGCC) expansion in the noncoding region of the chromosome 9 open reading frame 72 (C9orf72) gene is the most frequent genetic cause of ALS, but its metabolic pattern has not been studied systematically.OBJECTIVES To evaluate the use of 18 fluorodeoxyglucose-positron-emission tomography as a marker of ALS pathology and investigate whether a specific metabolic signature is present in patients with C9orf72 mutations. DESIGN, SETTING, AND PARTICIPANTSIn total, 81 patients with a suspected diagnosis of ALS at University Hospital Leuven were prospectively investigated. All underwent detailed neurological examination and electrodiagnostic and genetic testing for the major known genetic causes of ALS (C9orf72, SOD1, TARDBP, and FUS). A diagnosis of ALS was made in 70 of 81 patients. Of these, 11 were C9orf72 positive and 59 were C9orf72 negative. In 7 patients, the diagnosis of primary lateral sclerosis was made; 4 patients had progressive muscular atrophy. A screened healthy control population was used for comparison. MAIN OUTCOMES AND MEASURESPositron-emission tomographic data were spatially normalized and analyzed using a predefined volume of interest and a voxel-based analysis (SPM8). Discriminant analysis was done both volume of interest based and voxel based using a support vector machine approach.RESULTS Compared with control participants, 18 fluorodeoxyglucose-positron-emission tomography showed perirolandic and variable prefrontal hypometabolism in most patients. Patients with primary lateral sclerosis showed a similar pattern. Patients with C9orf72-positive ALS had discrete relative hypometabolism in the thalamus and posterior cingulate compared with those with C9orf72-negative ALS. A posteriori-corrected discriminant analysis was able to correctly classify 95% of ALS cases and 71% of primary lateral sclerosis cases. Prefrontal hypometabolism was associated with reduced clinical functioning (ALS Functional Rating Scale). Extensive hypometabolism in the prefrontal or anterior temporal areas was present in 10% of patients and associated with significantly shorter survival as an independent factor (n = 63, P < .001). Patients who were C9orf72 positive did not differ in survival compared with those who were C9orf72 negative. 18 Fluorodeoxyglucose-positron-emission tomography is a useful early diagnostic and prognostic marker for ALS. Amyotrophic lateral sclerosis that is positive for C9orf72 is characterized by only mild cerebral metabolic differences that show no prognostic difference. CONCLUSIONS AND RELEVANCE

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Section: Discussionsupporting

confidence: 94%

Value of¹⁸Fluorodeoxyglucose–Positron-Emission Tomography in Amyotrophic Lateral Sclerosis

et al. 2014

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“…Similarly, the 'inverted V sign' or hyperintensities of the dorsal columns is nonspecific and may be observed in subacute combined degeneration of the cord, copper deficiency myeloneuropathy and tabes dorsalis. Inferior cervical cord atrophy, anterior shifting of the posterior wall of the dural canal and enlarged posterior epidural compartment observed in flexion MR studies may indicate Hirayama disease, but similar findings may also be observed following trauma [10,11].…”

Section: Current Practice: Methods Challenges and Limitationsmentioning

confidence: 64%

From Pneumomyelography to Cord Tractography: Historical Perspectives on Spinal imaging

2017

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“…A large case series of 40 patients with Hirayama disease reported that more than a third of the patients participated in vigorous physical activity, such as sports, farm work or military training . Recently, a case of monomelic distal amyotrophy has been described in an international water‐ski champion , where repetitive high impact neck flexion was speculated to account for the development of the segmental myelopathy. Similar mechanisms may explain the role of antecedent trauma so frequently mentioned by our patients.…”

Section: Discussionmentioning

confidence: 99%

“…Our case series support the proposed role of physical activity in the development of symptoms. A trigger factor such as intensive physical exercise, trauma or has been described in an international water-ski champion [33], where repetitive high impact neck flexion was speculated to account for the development of the segmental myelopathy. Similar mechanisms may explain the role of antecedent trauma so frequently mentioned by our patients.…”

Section: Discussionmentioning

confidence: 99%

Revisiting the spectrum of lower motor neuron diseases with snake eyes appearance on magnetic resonance imaging

Lebouteux

Franques²,

Guillevin

et al. 2014

Euro J of Neurology

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Waterskier’s Hirayama syndrome

Cited by 11 publications

References 6 publications

Value of¹⁸Fluorodeoxyglucose–Positron-Emission Tomography in Amyotrophic Lateral Sclerosis

Value of¹⁸Fluorodeoxyglucose–Positron-Emission Tomography in Amyotrophic Lateral Sclerosis

From Pneumomyelography to Cord Tractography: Historical Perspectives on Spinal imaging

Revisiting the spectrum of lower motor neuron diseases with snake eyes appearance on magnetic resonance imaging

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Waterskier’s Hirayama syndrome

Cited by 11 publications

References 6 publications

Value of18Fluorodeoxyglucose–Positron-Emission Tomography in Amyotrophic Lateral Sclerosis

Value of18Fluorodeoxyglucose–Positron-Emission Tomography in Amyotrophic Lateral Sclerosis

From Pneumomyelography to Cord Tractography: Historical Perspectives on Spinal imaging

Revisiting the spectrum of lower motor neuron diseases with snake eyes appearance on magnetic resonance imaging

Contact Info

Product

Resources

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Value of¹⁸Fluorodeoxyglucose–Positron-Emission Tomography in Amyotrophic Lateral Sclerosis

Value of¹⁸Fluorodeoxyglucose–Positron-Emission Tomography in Amyotrophic Lateral Sclerosis