Evaluation of headaches in primary brain calcification in Japan

Kurita, Hisaka; Ozawa, Kazuhiro; Yamada, Megumi; Inden, Masatoshi; Hirata, Koichi; Hozumi, Isao

doi:10.1111/ncn3.12556

Cited by 2 publications

(1 citation statement)

References 29 publications

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“…In contrast, in six patients with the SLC20A2 variants that Batla reported in 2017, it was said that "headaches are relieved by oral medication, so it was not necessary to talk to a doctor about them [19]. Very recently, we have also showed that patients with the PDGFB variant have a tendency for a higher frequency of headaches [20]. The headaches in PBC may be the secondary headaches caused by the dysfunction of the blood-brain-barrier.…”

Section: Experiences Of the Patients Who Were Told They Suffer From A...mentioning

confidence: 92%

Living with primary brain calcification with PDGFB variants: A qualitative study

Takeuchi¹,

Aoyagi²,

Kuwako³

et al. 2022

PLoS ONE

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Introduction Primary brain calcification (PBC) is a rare and intractable neurodegenerative disease. SLC20A2 and PDGFB are two major causative genes. As there is no effective treatment to avoid further progression or to prevent the onset of the disease, the patients may experience psychological distress. There is a qualitative study on the experiences of patients with primary brain calcification with SLC20A2 variants. However, the experiences of patients with PDGFB variants of the disease have not been explored. The purpose of this study is to identify the experiences of patients with PDGFB variants after diagnosis. Materials and methods Semi-structured interviews were conducted once or twice a year for three years with five patients over the age of 21. The data were analyzed using inductive qualitative methods. Results Seven categories, 15 subcategories, and 129 codes were extracted. The seven categories are as follows: [Shock at hearing the term ‘brain calcification’ for the first time], [Anxiety regarding the risk of heredity], [Anxiety, along with severe headaches, and various other symptoms], [Gratitude for the family members who care], [Accepting the disease as a non-life-threatening illness], [Feeling alienated due to the rare intractable disease], and [Modifying lifestyle due to the illness]. Discussion The most stressful aspect of the disease was the headache that persisted even with the use of analgesics, which was different from patients with the SLC20A2 variants. In addition, we found unique concepts such as anxiety regarding the risk of heredity and a feeling of alienation due to the rare and intractable disease.

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Section: Experiences Of the Patients Who Were Told They Suffer From A...mentioning

confidence: 92%

Living with primary brain calcification with PDGFB variants: A qualitative study

Takeuchi¹,

Aoyagi²,

Kuwako³

et al. 2022

PLoS ONE

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Non-Motor Symptoms in Primary Familial Brain Calcification

Bonato,

Cimino,

Pistonesi

et al. 2024

JCM

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Background/Objectives: Primary Familial Brain Calcification is a rare neurodegenerative disorder of adulthood characterized by calcium deposition in the basal ganglia and other brain areas; the main clinical manifestations include movement disorders, mainly parkinsonism. Non-motor symptoms are not well defined in PFBC. This work aims at defining the burden of non-motor symptoms in PFBC. Methods: A clinical, genetic and neuropsychological evaluation of a cohort of PFBC patients, COMPASS-31 scale administration. Results: A total of 50 PFBC patients were recruited; in 25, the genetic test was negative; 10 carried mutations in SLC20A2 gene, 8 in MYORG, 3 in PDGFB, 1 in PDGFRB, 2 in JAM2 (single mutations), and one test is still ongoing. The main motor manifestation was parkinsonism. Headache was reported in 26% of subjects (especially in PDGFB mutation carriers), anxiety or depression in 62%, psychosis or hallucinations in 10–12%, sleep disturbances in 34%; 14% of patients reported hyposmia, 32% constipation, and 34% urinary disturbances. A neuropsychological assessment revealed cognitive involvement in 56% (sparing memory functions, to some extent). The COMPASS-31 mean score was 20.6, with higher sub-scores in orthostatic intolerance and gastrointestinal problems. MYORG patients and subjects with cognitive decline tended to have higher scores and bladder involvement compared to other groups. Conclusions: The presence of non-motor symptoms is frequent in PFBC and should be systematically assessed to better meet patients’ needs.

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Evaluation of headaches in primary brain calcification in Japan

Cited by 2 publications

References 29 publications

Living with primary brain calcification with PDGFB variants: A qualitative study

Living with primary brain calcification with PDGFB variants: A qualitative study

Non-Motor Symptoms in Primary Familial Brain Calcification

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