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<p>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. <InternalRef RefID="Fig1">1</InternalRef>A 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&gt;C], which was detected on genome sequencing in the context of concernsfor tremor, hyperreflexia, neuropathy, poor coordination, hyperlipidemia andhypertension.</p>

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Retro-cerebellar arachnoid cyst in a patient with a novel SPG7

  • 期刊论文

  • 发表日期：

    2026年3月12日

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  • Khaled I Dweik,
  • Sotiris G Mitropanopoulos,
  • Mayowa A Osundiji

摘要

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.