Evidence map›Paper›PMID 41782179›Full record

ArticleJournal of the peripheral nervous system : JPNS2026

Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant.

Georgios Koutsis, Zoi Kontogeorgiou, Charalampos Tzempetzis, Nikolaos Ragazos, Evgenia Efthymiou, Chrisoula Kartanou, Chrysoula Koniari, Nikolaos Giagkou, Klio Chatzistefanou, Georgios Velonakis and 2 more

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Article in Journal of the peripheral nervous system : JPNS, 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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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Georgios KoutsisNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian Universtiy of Athens, Athens, Greece.ORCID https://orcid.org/0000-0002-8980-8377
Zoi KontogeorgiouNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian Universtiy of Athens, Athens, Greece.
Charalampos TzempetzisNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian Universtiy of Athens, Athens, Greece.
Nikolaos RagazosNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian Universtiy of Athens, Athens, Greece.
Evgenia Efthymiou2nd Department of Radiology, School of Medicine, University General Hospital of Athens "Attikon", National and Kapodistrian University of Athens, Athens, Greece.
Chrisoula KartanouNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian Universtiy of Athens, Athens, Greece.
Chrysoula KoniariNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian Universtiy of Athens, Athens, Greece.
Nikolaos Giagkou1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Klio Chatzistefanou1st Department of Ophthalmology, National and Kapodistrian University of Athens, Strabismus Service, General Hospital of Athens "G. Genimatas", Athens, Greece.
Georgios Velonakis2nd Department of Radiology, School of Medicine, University General Hospital of Athens "Attikon", National and Kapodistrian University of Athens, Athens, Greece.
Georgia KaradimaNeurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian Universtiy of Athens, Athens, Greece.
Vasiliki Zouvelou1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

aimsCMT1H is a rare, autosomal dominant, demyelinating subtype of CMT caused by variants in FBLN5. Symptomatic cranial nerve involvement has never been reported in patients with CMT1H. CASE REPORT: We report a 45-year-old woman with a history of long-standing diplopia. On examination, she had bilateral limitation of eye abduction, with double vision in all directions of gaze, particularly horizontally. She was unable to heel-walk, had mild lower limb distal weakness, decreased tendon reflexes with absent Achilles reflexes, reduced distal vibration sense, pes cavus, and hammertoes. A dominant family history was noted. Brain MRI revealed bilateral contrast enhancement and thickening of cranial nerves III through XII. Genetic testing with whole exome sequencing revealed a known, recurring, heterozygous, likely pathogenic missense variant in FBLN5 [c.1117C>T; p. (Arg373Cys)], consistent with a diagnosis of CMT1H.

interpretationThis is the first reported case of FBLN5-related CMT1H with symptomatic cranial nerve involvement, expanding the known phenotypic spectrum of the disease.

Indexed as

Charcot-Marie-Tooth DiseaseCranial Nerve DiseasesCranial NervesDiplopiaMicrofilament ProteinsFemaleHumansMiddle AgedMutation, MissenseMicrofilament ProteinsCharcot‐Marie‐toothCMT1Hcranial nerve involvementdiplopiaFBLN5

Identifiers

PMID41782179
PMCPMC12960836

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.