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Erschienen in: Neurological Sciences 3/2020

09.12.2019 | Brief Communication

SPG8 mutations in Italian families: clinical data and literature review

verfasst von: Federica Ginanneschi, Angelica D’Amore, Melissa Barghigiani, Alessandra Tessa, Alessandro Rossi, Filippo Maria Santorelli

Erschienen in: Neurological Sciences | Ausgabe 3/2020

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Abstract

Background

Spastic paraplegia type 8 (SPG8) is an autosomal-dominant form of hereditary spastic paraplegia (AD-HSP) caused by a mutation in the KIAA0196 gene. SPG8 accounts for 1% of less of all AD-HSP and the genotype–phenotype correlation remains poorly understood.

Methods

We report the first clinical and genetic description of SPG8 disease in Italian patients. We identified four new mutations in KIAA0196 gene. These variants were identified using a multigene targeted resequencing HSP panel. We took this opportunity to review the pertinent literature.

Results

Age at disease onset was in the third or fourth decade of life. Stiffness of the lower limb with spastic gait, walking impairment, and decreased vibration sense were common early symptoms. Subjects of two families had bladder control abnormalities. Unlike previous reported cases, Italian SPG8 subjects have pure form of spastic paraparesis without cranial nerve involvement, and onset is in adult life.

Discussion

By a clinical point of view, it is hard to differentiate SPG8 from the SPG4, in which bladder and vibration sense dysfunctions are frequent signs. The differential diagnosis with other forms of AD-HSPs seems relatively easier if one considers the early-onset manifestations in SPG3A and the peripheral nervous system and cerebellar involvement seen in SPG31.
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Metadaten
Titel
SPG8 mutations in Italian families: clinical data and literature review
verfasst von
Federica Ginanneschi
Angelica D’Amore
Melissa Barghigiani
Alessandra Tessa
Alessandro Rossi
Filippo Maria Santorelli
Publikationsdatum
09.12.2019
Verlag
Springer International Publishing
Erschienen in
Neurological Sciences / Ausgabe 3/2020
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-019-04180-z

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