ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2026
Retro-cerebellar arachnoid cyst in a patient with a novel SPG7 : Pathogenic Splice Site Variant.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Arachnoid cysts have been previously reported in SPG4-related disorders1. AlthoughSPG4 and SPG7 are both members of the ATPases Associated with diverse cellularActivities (AAA) protein family2, arachnoid cysts have not been heretofore reported inSPG7-related disorders. We identified arachnoid cysts in 2 unrelated patients withSPG7-related disorders and hereby present the neuroimages (Fig. 1A and B) fromone of the patients. We report retro-cerebellar arachnoid cyst in a 45-year-old man witha novel heterozygous germline SPG7 pathogenic splice site variant [NM_003119.4,c.861+1G>C], which was detected on genome sequencing in the context of concernsfor tremor, hyperreflexia, neuropathy, poor coordination, hyperlipidemia andhypertension.
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