Characterizing and expanding the neurological clinical spectrum of PHARC syndrome: a systematic review.

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Tác giả: Raquel Barbosa, Paulo Bugalho, Marta Magriço, Bruna Meira, Vítor Mendes Ferreira

Ngôn ngữ: eng

Ký hiệu phân loại: 616.858841 Diseases of nervous system and mental disorders

Thông tin xuất bản: Italy : Acta neurologica Belgica , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 685960

PHARC syndrome is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene and is characterized by five main clinical features: polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts. This systematic review aimed to characterize the neurological features of PHARC syndrome and identify potential new clinical features. A systematic search of studies reporting cases of PHARC syndrome was conducted using PubMed/MEDLINE and NLM databases, identifying 57 unique cases. The results showed that hearing loss was the most common initial symptom, with a complete syndrome observed in only 31.6% of reported cases. The mean diagnostic delay from the appearance of the first PHARC-related symptom to diagnosis was 20.5 years. Although pyramidal signs are not classically associated with PHARC syndrome, they were a prevalent feature when assessed. Patients with pyramidal signs were more likely to exhibit an ataxic phenotype (p-value 0.018), a complete syndrome (p-value 0.092), and cerebellar atrophy on MRI (p-value 0.001), compared to those without pyramidal signs. This review further supports the highly variable phenotype of PHARC syndrome and the lack of a clear genotype-phenotype correlation. Further research is needed to clarify the relevance of these findings within the clinical spectrum of PHARC syndrome.
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