Evidence map›Paper›PMID 40533696›Full record

ReviewCerebellum (London, England)2025

PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.

Sergio Roberto Pereira da Silva, Renata Montes Garcia Barbosa, Patricia Pontes Cruz, Lunielle da Cruz Caldeira, Daniel de Queiroz Omote, João Cláudio da Costa Urbano, Matheus Augusto Araújo Castro, Jacy Bezerra Parmera, Fernando Magri, Fernando Kok and 1 more

Abstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Cerebellum (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Sergio Roberto Pereira da SilvaDepartment of Neurology, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 255, 5 Andar- Cerqueira César, São Paulo, Brazil. sergio_rbt@yahoo.com.br.
Renata Montes Garcia BarbosaDepartment of Neurology, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 255, 5 Andar- Cerqueira César, São Paulo, Brazil.
Patricia Pontes CruzDepartment of Neurology, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 255, 5 Andar- Cerqueira César, São Paulo, Brazil.
Lunielle da Cruz CaldeiraDepartment of Neurology, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 255, 5 Andar- Cerqueira César, São Paulo, Brazil.
Daniel de Queiroz OmoteDepartment of Ophtalmology, University of São Paulo, São Paulo, Brazil.
João Cláudio da Costa UrbanoDepartment of Neurology, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 255, 5 Andar- Cerqueira César, São Paulo, Brazil.
Matheus Augusto Araújo CastroDepartment of Neurology, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 255, 5 Andar- Cerqueira César, São Paulo, Brazil.
Jacy Bezerra ParmeraDepartment of Neurology, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 255, 5 Andar- Cerqueira César, São Paulo, Brazil.
Fernando MagriDepartment of Neurology, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 255, 5 Andar- Cerqueira César, São Paulo, Brazil.
Fernando KokDepartment of Neurology, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 255, 5 Andar- Cerqueira César, São Paulo, Brazil.
Fernando FreuaDepartment of Neurology, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 255, 5 Andar- Cerqueira César, São Paulo, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a rare condition caused by mutations in ABHD12. We present the first documented case of PHARC in a Brazilian patient. Describe the clinical and genetic aspects of patients diagnosed with PHARC through a literature review. A literature review was conducted in February 2024 using Pubmed/Medline database. We also report a 37-year-old Brazilian woman diagnosed with PHARC. Between 38 patients diagnosed with this condition, the majority were male (74.35%) and the median age was 35.7 years. The most common symptom reported was ataxia (79.4%). The main finding of Brain MRI was cerebellar atrophy, and demyelinating polyneuropathy was the commonest finding in electroneuromyography, both were found in 28.2% of patients. PHARC syndrome is a rare autosomal recessive condition that is increasingly reported in the literature. Refsum disease and Usher syndrome are the main differential diagnosis. A multidisciplinary approach and follow-up are crucial for accurate diagnosis and treatment.

Indexed as

AtaxiaCataractHearing LossPolyneuropathiesRetinitis PigmentosaAdultFemaleHumansMonoacylglycerol LipasesABHD12 protein, humanMonoacylglycerol LipasesABHD12AtaxiaCataractHearing lossPHARC syndromeRetinitis pigmentosa

Identifiers

PMID40533696

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.