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Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants

Yektay Farahmand, Maha LU orcid ; Wasselius, Johan LU ; Englund, Elisabet LU orcid ; Braverman, Irwin ; Puschmann, Andreas LU orcid and Ilinca, Andreea LU orcid (2024) In Neurologia i neurochirurgia polska p.94-105
Abstract

INTRODUCTION: Primary familial brain calcification (PFBC) is a neurodegenerative disease characterised by bilateral calcification in the brain, especially in the basal ganglia, leading to neurological and neuropsychiatric manifestations. White matter hyperintensities (WMH) have been described in patients with PFBC and pathogenic variants in the gene for platelet-derived growth factor beta polypeptide (PDGFB), suggesting a manifest cerebrovascular process. We present below the cases of two PFBC families with PDGFB variants and stroke or transient ischaemic attack (TIA) episodes. We examine the possible correlation between PFBC and vascular events as stroke/TIA, and evaluate whether signs for vascular disease in this condition are... (More)

INTRODUCTION: Primary familial brain calcification (PFBC) is a neurodegenerative disease characterised by bilateral calcification in the brain, especially in the basal ganglia, leading to neurological and neuropsychiatric manifestations. White matter hyperintensities (WMH) have been described in patients with PFBC and pathogenic variants in the gene for platelet-derived growth factor beta polypeptide (PDGFB), suggesting a manifest cerebrovascular process. We present below the cases of two PFBC families with PDGFB variants and stroke or transient ischaemic attack (TIA) episodes. We examine the possible correlation between PFBC and vascular events as stroke/TIA, and evaluate whether signs for vascular disease in this condition are systemic or limited to the cerebral vessels.

MATERIAL AND METHODS: Two Swedish families with novel truncating PDGFB variants, p.Gln140* and p.Arg191*, are described clinically and radiologically. Subcutaneous capillary vessels in affected and unaffected family members were examined by light and electron microscopy.

RESULTS: All mutation carriers showed WMH and bilateral brain calcifications. The clinical presentations differed, with movement disorder symptoms dominating in family A, and psychiatric symptoms in family B. However, affected members of both families had stroke, TIA, and/or asymptomatic intracerebral ischaemic lesions. Only one of the patients had classical vascular risk factors. Skin microvasculature was normal.

CONCLUSIONS: Patients with these PDGFB variants develop microvascular changes in the brain, but not the skin. PDGFB-related small vessel disease can manifest radiologically as cerebral haemorrhage or ischaemia, and may explain TIA or stroke in patients without other vascular risk factors.

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author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
epub
subject
in
Neurologia i neurochirurgia polska
pages
94 - 105
publisher
Termedia Publishing House Ltd.
external identifiers
  • scopus:85186451788
  • pmid:38156729
ISSN
0028-3843
DOI
10.5603/pjnns.97716
language
English
LU publication?
yes
id
f818eafc-e250-466f-a0d9-e030fcdb92a3
date added to LUP
2024-02-02 19:21:09
date last changed
2024-04-18 15:53:04
@article{f818eafc-e250-466f-a0d9-e030fcdb92a3,
  abstract     = {{<p>INTRODUCTION: Primary familial brain calcification (PFBC) is a neurodegenerative disease characterised by bilateral calcification in the brain, especially in the basal ganglia, leading to neurological and neuropsychiatric manifestations. White matter hyperintensities (WMH) have been described in patients with PFBC and pathogenic variants in the gene for platelet-derived growth factor beta polypeptide (PDGFB), suggesting a manifest cerebrovascular process. We present below the cases of two PFBC families with PDGFB variants and stroke or transient ischaemic attack (TIA) episodes. We examine the possible correlation between PFBC and vascular events as stroke/TIA, and evaluate whether signs for vascular disease in this condition are systemic or limited to the cerebral vessels.</p><p>MATERIAL AND METHODS: Two Swedish families with novel truncating PDGFB variants, p.Gln140* and p.Arg191*, are described clinically and radiologically. Subcutaneous capillary vessels in affected and unaffected family members were examined by light and electron microscopy.</p><p>RESULTS: All mutation carriers showed WMH and bilateral brain calcifications. The clinical presentations differed, with movement disorder symptoms dominating in family A, and psychiatric symptoms in family B. However, affected members of both families had stroke, TIA, and/or asymptomatic intracerebral ischaemic lesions. Only one of the patients had classical vascular risk factors. Skin microvasculature was normal.</p><p>CONCLUSIONS: Patients with these PDGFB variants develop microvascular changes in the brain, but not the skin. PDGFB-related small vessel disease can manifest radiologically as cerebral haemorrhage or ischaemia, and may explain TIA or stroke in patients without other vascular risk factors.</p>}},
  author       = {{Yektay Farahmand, Maha and Wasselius, Johan and Englund, Elisabet and Braverman, Irwin and Puschmann, Andreas and Ilinca, Andreea}},
  issn         = {{0028-3843}},
  language     = {{eng}},
  month        = {{01}},
  pages        = {{94--105}},
  publisher    = {{Termedia Publishing House Ltd.}},
  series       = {{Neurologia i neurochirurgia polska}},
  title        = {{Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants}},
  url          = {{http://dx.doi.org/10.5603/pjnns.97716}},
  doi          = {{10.5603/pjnns.97716}},
  year         = {{2024}},
}