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Last update 08 May 2025

Fatty Acid Hydroxylase-Associated Neurodegeneration

Last update 08 May 2025

Basic Info

Synonyms

Dysmyelinating Leukodystrophy and Spastic Paraparesis, Dysmyelinating leukodystrophy and spastic paraparesis, FAHN

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Introduction

An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the FA2H gene, encoding fatty acid 2-hydroxylase.

Clinical Trials associated with Fatty Acid Hydroxylase-Associated Neurodegeneration

JPRN-UMIN000039003

/ RecruitingNot ApplicableIIT

The study on lipid components of epidermis in patients with FAHN - Lipid components of epidermis in patients with FAHN

Start Date01 Mar 2020

Sponsor / Collaborator

Nagoya University Graduate School of Medicine

NCT05522374

/ RecruitingNot ApplicableIIT

TIRCON International NBIA (Neurodegeneration Associated With Brain Iron Accumulation) Patient Registry and Natural History Study

TIRCON-reg aims to
continue the provision of a global registry and natural history study for NBIA disorders
harmonize and cover existing national and single site registries
enable participation of countries and single sites that so far have no access to an NBIA registry
join forces in order to recruit sufficient numbers of patients
define the natural history of NBIA disorders
define the most appropriate outcome measures
inform the design and facilitate the conduction of clinical trials

Start Date14 Jun 2012

Sponsor / Collaborator

University Hospital of Ludwig-Maximilians-University

100 Clinical Results associated with Fatty Acid Hydroxylase-Associated Neurodegeneration

100 Translational Medicine associated with Fatty Acid Hydroxylase-Associated Neurodegeneration

0 Patents (Medical) associated with Fatty Acid Hydroxylase-Associated Neurodegeneration

Literatures (Medical) associated with Fatty Acid Hydroxylase-Associated Neurodegeneration

01 Mar 2025·Journal of Clinical Neuroscience

Gamma knife versus linear accelerator thalamotomy for essential tremor and Parkinson’s disease: A systematic review and meta-analysis

Review

Author: Chang, Stephano ; Tenn, Stephen ; Kaprealian, Tania ; Bari, Ausaf ; Savjani, Ricky ; Chintapalli, Renuka

BACKGROUNDTremor, either in patients with Essential Tremor (ET) or Parkinson's disease (PD), constitutes the most common movement disorder. Stereotactic radiosurgery using Gamma Knife (GK) and linear accelerator (LINAC) systems, is an effective, incisionless treatment modality for ET and PD. Although these technologies have been used clinically since the 1990's, most studies have focused on GK, and efficacy, safety and time to treatment effect (latency) of GK and LINAC have not been compared.OBJECTIVEWe therefore aimed to conduct a systematic review with network meta-analysis examining efficacy, adverse events (AEs) and latency of GK and LINAC for treating tremor in ET and PD.METHODSWe conducted a systematic review with network meta-analysis in accordance with PRISMA guidelines, using the Embase and PubMed databases. We included all primary GK/LINAC thalamotomy studies in ET/PD patients with at least 6 months of follow-up, reporting unilateral Fahn-Tolosa-Marin Tremor Scale (FTM-TRS) or Unified Parkinson's disease rating scale (UPDRS) scores pre-treatment/post-treatment and/or AEs and/or latency. The primary efficacy outcome was FTM-TRS Scale A or UPDRS Item 16 score reduction. AEs were presented as an estimated incidence, and latency as average time to first recorded clinical improvement in tremor.RESULTSSix studies of 311 patients and 2 studies of 60 patients met inclusion criteria for GK/LINAC efficacy comparison, respectively. Network meta-analysis showed similar tremor reduction between modalities (standardized mean difference between pre- and post-treatment scores: GK: -2.18 (95 % CI: -2.79, -1.57); LINAC: -2.13 (95 % CI: -5.13, 0.87). GK also had a higher absolute AE rate, while LINAC was associated with a greater latency period. There was no correlation between GK efficacy and AE rate.CONCLUSIONSDespite the relatively small sample sizes, these results demonstrate similar efficacy between GK and LINAC for ET and PD, with a trend toward higher efficacy but greater AE incidence and slower onset of tremor improvement in GK compared to LINAC.

25 Mar 2024·Journal of Pediatric Endocrinology and Metabolism

Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration

Author: Yürek, Burak ; Engin Erdal, Ayşenur ; Kasapkara, Çiğdem Seher ; Çıtak Kurt, Ayşegül Neşe ; Kıreker Köylü, Oya ; Ceylan, Ahmet Cevdet

AbstractObjectivesThe fatty acid 2-hydroxylase gene (FA2H) compound heterozygous or homozygous variants that cause spastic paraplegia type 35 (SPG35) (OMIM # 612319) are autosomal recessive HSPs. FA2H gene variants in humans have been shown to be associated with not only SPG35 but also leukodystrophy and neurodegeneration with brain iron accumulation.Case presentationA patient with a spastic gait since age seven was admitted to the paediatric metabolism department. She was born to consanguineous, healthy Turkish parents and had no family history of neurological disease. She had normal developmental milestones and was able to walk at 11 months. At age seven, she developed a progressive gait disorder with increased muscle tone in her lower limbs, bilateral ankle clonus and dysdiadochokinesis. She had frequent falls and deteriorating school performance. Despite physiotherapy, her spastic paraplegia was progressive. Whole exome sequencing (WES) identified a homozygous NM_024306.5:c.460C>T missense variant in the FA2H gene, of which her parents were heterozygous carriers. A brain MRI showed a slight reduction in the cerebellar volume with no iron deposits.ConclusionsPathogenic variants of the FA2H gene have been linked to neurodegeneration with iron accumulation in the brain, leukodystrophy and SPG35. When patients developed progressive gait deterioration since early childhood even if not exhibited hypointensity in the basal ganglia detected by neuroimaging, FA2H-related neurodegeneration with brain iron accumulation should be ruled out. FA2H/SPG35 disease is characterised by notable clinical and imaging variability, as well as phenotypic diversity.

01 Mar 2024·Pediatric Neurology

A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients

Article

Author: Mo, Lidangzhi ; Yang, Ying ; Li, Benchang ; Wang, Guoxia ; Zhang, Liyu ; Che, Fengyu ; Tie, Xiaoling

BACKGROUNDFatty acid 2-hydroxylase (FA2H) is encoded by the FA2H gene, with mutations therein leading to the neurodegenerative condition, spastic paraplegia-35 (SPG35). We aim to elucidate the genetic underpinnings of a nonconsanguineous Chinese family diagnosed with SPG35 by examining the clinical manifestations, scrutinizing genetic variants, and establishing the role of FA2H mutation in lipid metabolism.METHODSUsing next-generation sequencing analysis to identify the pathogenic gene in this pedigree and family cosegregation verification. The use of lipidomics of patient pedigree peripheral blood mononuclear cells further substantiated alterations in lipid metabolism attributable to the FA2H exon 1 deletion.RESULTSThe proband exhibited gait disturbance from age 5 years; he developed further clinical manifestations such as scissor gait and dystonia. His younger sister also presented with a spastic gait from the same age. We identified a homozygous deletion in the region of FA2H exon 1, spanning from chr16:74807867 to chr16: 74810391 in the patients. Lipidomic analysis revealed significant differences in 102 metabolites compared with healthy controls, with 62 metabolites increased and 40 metabolites decreased. We specifically zeroed in on 19 different sphingolipid metabolites, which comprised ceramides, ganglioside, etc., with only three of these sphingolipids previously reported.CONCLUSIONSThis is the first study of lipid metabolism in the blood of patients with SPG35. The results broaden our understanding of the SPG35 gene spectrum, offering insights for future molecular mechanism research and laying groundwork for determining metabolic markers.

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Fatty Acid Hydroxylase-Associated Neurodegeneration

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