Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention
Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder caused by mutations in the <i>CYP27A1</i> gene, leading to cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is an underrecognized feature with considerable variability in clinical pr...
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MDPI AG
2024-11-01
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| Online Access: | https://www.mdpi.com/2076-3425/14/11/1159 |
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| author | Antonio Edvan Camelo-Filho Pedro Lucas Grangeiro Sá Barreto Lima Francisco Luciano Honório Barreto Cavalcante Oliver Reiks Miyajima Carolina Figueiredo Santos Rodrigo Fagundes da Rosa André Luiz Santos Pessoa Pedro Braga-Neto Paulo Ribeiro Nóbrega |
| author_facet | Antonio Edvan Camelo-Filho Pedro Lucas Grangeiro Sá Barreto Lima Francisco Luciano Honório Barreto Cavalcante Oliver Reiks Miyajima Carolina Figueiredo Santos Rodrigo Fagundes da Rosa André Luiz Santos Pessoa Pedro Braga-Neto Paulo Ribeiro Nóbrega |
| author_sort | Antonio Edvan Camelo-Filho |
| collection | DOAJ |
| description | Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder caused by mutations in the <i>CYP27A1</i> gene, leading to cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is an underrecognized feature with considerable variability in clinical presentation and neurophysiological findings in CTX. This review assesses the prevalence, clinical manifestations, and diagnostic methodologies of polyneuropathy in CTX, exploring its underlying mechanisms and potential treatment outcomes. A literature review was conducted using PubMed, Embase, and the Virtual Health Library databases with search terms related to CTX and polyneuropathy. A total of 892 articles were initially identified, with 59 selected for in-depth analysis. The review focused on studies examining peripheral nerve involvement in CTX, including nerve conduction studies, electromyography, and nerve ultrasound. Polyneuropathy in CTX was observed in 50% to 77.7% of patients across multiple case series. Neurophysiological findings varied, with reports of axonal, demyelinating, and mixed polyneuropathies. Clinical presentation included lower limb atrophy, pes cavus, and distal weakness, with sensory symptoms less frequently reported. Treatment with chenodeoxycholic acid (CDCA) showed potential in improving nerve conduction parameters, although the response was variable and dependent on the timing of intervention. Polyneuropathy in CTX presents significant diagnostic challenges due to its heterogeneous presentation and varying neurophysiological findings. Early recognition and intervention are crucial for improving patient outcomes. Peripheral nerve ultrasound is a promising diagnostic tool, complementing traditional neurophysiological assessments. Further research is needed to standardize protocols and explore the full therapeutic potential of CDCA in managing CTX-related polyneuropathy. |
| format | Article |
| id | doaj-art-a242ae5464394c13abe6f2b550a213e3 |
| institution | Kabale University |
| issn | 2076-3425 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj-art-a242ae5464394c13abe6f2b550a213e32024-11-26T17:55:14ZengMDPI AGBrain Sciences2076-34252024-11-011411115910.3390/brainsci14111159Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic InterventionAntonio Edvan Camelo-Filho0Pedro Lucas Grangeiro Sá Barreto Lima1Francisco Luciano Honório Barreto Cavalcante2Oliver Reiks Miyajima3Carolina Figueiredo Santos4Rodrigo Fagundes da Rosa5André Luiz Santos Pessoa6Pedro Braga-Neto7Paulo Ribeiro Nóbrega8Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza 60430-372, Ceara, BrazilDivision of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza 60430-372, Ceara, BrazilDivision of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza 60430-372, Ceara, BrazilCenter of Health Sciences, State University of Ceara, Fortaleza 60714-903, Ceara, BrazilCurso de Medicina, Universidade de Fortaleza, Fortaleza 60150-160, Ceara, BrazilDivision of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza 60430-372, Ceara, BrazilDivision of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza 60430-372, Ceara, BrazilDivision of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza 60430-372, Ceara, BrazilDivision of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza 60430-372, Ceara, BrazilCerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder caused by mutations in the <i>CYP27A1</i> gene, leading to cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is an underrecognized feature with considerable variability in clinical presentation and neurophysiological findings in CTX. This review assesses the prevalence, clinical manifestations, and diagnostic methodologies of polyneuropathy in CTX, exploring its underlying mechanisms and potential treatment outcomes. A literature review was conducted using PubMed, Embase, and the Virtual Health Library databases with search terms related to CTX and polyneuropathy. A total of 892 articles were initially identified, with 59 selected for in-depth analysis. The review focused on studies examining peripheral nerve involvement in CTX, including nerve conduction studies, electromyography, and nerve ultrasound. Polyneuropathy in CTX was observed in 50% to 77.7% of patients across multiple case series. Neurophysiological findings varied, with reports of axonal, demyelinating, and mixed polyneuropathies. Clinical presentation included lower limb atrophy, pes cavus, and distal weakness, with sensory symptoms less frequently reported. Treatment with chenodeoxycholic acid (CDCA) showed potential in improving nerve conduction parameters, although the response was variable and dependent on the timing of intervention. Polyneuropathy in CTX presents significant diagnostic challenges due to its heterogeneous presentation and varying neurophysiological findings. Early recognition and intervention are crucial for improving patient outcomes. Peripheral nerve ultrasound is a promising diagnostic tool, complementing traditional neurophysiological assessments. Further research is needed to standardize protocols and explore the full therapeutic potential of CDCA in managing CTX-related polyneuropathy.https://www.mdpi.com/2076-3425/14/11/1159cerebrotendineous xanthomatosispolyneuropathyEMGnerve ultrasound |
| spellingShingle | Antonio Edvan Camelo-Filho Pedro Lucas Grangeiro Sá Barreto Lima Francisco Luciano Honório Barreto Cavalcante Oliver Reiks Miyajima Carolina Figueiredo Santos Rodrigo Fagundes da Rosa André Luiz Santos Pessoa Pedro Braga-Neto Paulo Ribeiro Nóbrega Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention Brain Sciences cerebrotendineous xanthomatosis polyneuropathy EMG nerve ultrasound |
| title | Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention |
| title_full | Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention |
| title_fullStr | Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention |
| title_full_unstemmed | Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention |
| title_short | Polyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention |
| title_sort | polyneuropathy in cerebrotendinous xanthomatosis diagnostic challenges and potential for therapeutic intervention |
| topic | cerebrotendineous xanthomatosis polyneuropathy EMG nerve ultrasound |
| url | https://www.mdpi.com/2076-3425/14/11/1159 |
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