Familial hemifacial spasm

Hemifacial spasm (HFS) is a hyperkinetic disorder predominantly associated with neurovascular conflict (NVC). The article presents a clinical case of familial HFS in three females from successive generations (age of onset 25-28 years). In two patients, the onset was associated with childbirth. MRI revealed an NVC in one patient, while in the other two, it was absent or the findings were inconclusive. ENMG showed signs of demyelination in one patient and hyperactivity of the blinking reflex in another, confirming the role of ephaptic transmission. A possible hereditary predisposition is discussed, including anatomical features of the posterior fossa and genetic factors. Familial cases of HFS require further study to clarify the etiology and pathogenesis.

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Publication Details

Journal
S S Korsakov Journal of Neurology and Psychiatry
Published
2025-11-20
DOI
https://doi.org/10.17116/jnevro202512511265
Primary Topic
Trigeminal Neuralgia and Treatments
Type
article
Field-Weighted Citation Impact
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article

Familial hemifacial spasm

И. А. Хасанов, Zuleikha A Zalyalova, Diana Khasanova, A. F. Akhatov et al.
S S Korsakov Journal of Neurology and Psychiatry
Trigeminal Neuralgia and Treatments
article

Familial hemifacial spasm

И. А. Хасанов, Zuleikha A Zalyalova, Diana Khasanova, A. F. Akhatov, Alexander Rogozhin
article en

Abstract

Hemifacial spasm (HFS) is a hyperkinetic disorder predominantly associated with neurovascular conflict (NVC). The article presents a clinical case of familial HFS in three females from successive generations (age of onset 25-28 years). In two patients, the onset was associated with childbirth. MRI revealed an NVC in one patient, while in the other two, it was absent or the findings were inconclusive. ENMG showed signs of demyelination in one patient and hyperactivity of the blinking reflex in another, confirming the role of ephaptic transmission. A possible hereditary predisposition is discussed, including anatomical features of the posterior fossa and genetic factors. Familial cases of HFS require further study to clarify the etiology and pathogenesis.

S S Korsakov Journal of Neurology and PsychiatryVol. 125(11)
Kazan State Medical University (RU), Consultative and Diagnostic Center (RU), Impulse Dynamics (United States) (US), Centre for Artificial Intelligence and Robotics (IN), Millennium Engineering and Integration (United States) (US)
Openalex Percentile: Top 51%
Trigeminal Neuralgia and Treatments
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