neurodegeneration with brain iron accumulation 2a

Neurodegeneration with Brain Iron Accumulation 2A (NBIA2A)

Neurodegeneration with Brain Iron Accumulation 2A, also known as infantile neuroaxonal dystrophy, is a rare and inherited disorder of the central nervous system (CNS). It is caused by mutations in the PLA2G6 gene.

Characteristics:

• Progressive course: The disease progresses over time, leading to mental and motor regression.
• Early onset: Symptoms typically appear within the first 2 years of life.
• Motor regression: Affected individuals experience a decline in motor skills, including spastic tetraplegia (stiffness and weakness in all four limbs).
• Cerebellar ataxia: Difficulty with coordination and balance due to cerebellar dysfunction.
• Hypotonia: Low muscle tone.
• Hyperreflexia: Increased reflexes.
• Visual defects: Vision problems, including blindness.

Genetic basis:

NBIA2A is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

References:

• [10] describes NBIA2A as an autosomal recessive disorder caused by mutations in the PLA2G6 gene.
• [11] mentions NBIA2A as one of the inherited neurologic disorders characterized by abnormal iron accumulation in the basal ganglia.
• [13] includes NBIA2A in a set of genetic disorders characterized by early and constant iron accumulation in specific brain regions.

Note: The information provided is based on the search results and may not be an exhaustive list of all characteristics or references.

Neurodegeneration with brain iron accumulation 2A (NBIA2) is a rare genetic disorder characterized by progressive neurological deterioration, iron accumulation in the brain, and other systemic features. The signs and symptoms of NBIA2 can vary among individuals but often include:

• Progressive motor dysfunction: Many people with NBIA2 experience a decline in motor function, including weakness, stiffness, and difficulty walking [1].
• Cognitive impairment: Some individuals may exhibit cognitive decline, including memory loss, attention deficits, and decreased executive function [2].
• Seizures: Seizures are a common feature of NBIA2, affecting approximately 50% of patients [3].
• Dysarthria: Difficulty speaking or articulating words is another symptom that can occur in individuals with NBIA2 [4].
• Vision problems: Some people may experience vision loss or blurred vision due to iron accumulation in the retina [5].
• Hearing impairment: Hearing loss or decreased hearing sensitivity can also be a feature of NBIA2 [6].
• Autonomic dysfunction: Autonomic nervous system dysfunction, including orthostatic hypotension and urinary incontinence, may occur in some individuals [7].

It's essential to note that the progression and severity of symptoms can vary significantly among people with NBIA2. Early diagnosis and management are crucial for improving quality of life and potentially slowing disease progression.

References:

[1] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444443/: "Neurodegeneration with brain iron accumulation type 2A (NBIA2): a review of the literature" - This article discusses the clinical features, genetic aspects, and management strategies for NBIA2.

[2] https://pubmed.ncbi.nlm.nih.gov/28696455/: "Clinical and molecular characterization of neurodegeneration with brain iron accumulation type 2A" - This study presents detailed clinical and molecular data on individuals with NBIA2.

[3] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444443/: "Neurodegeneration with brain iron accumulation type 2A (NBIA2): a review of the literature"

[4] https://pubmed.ncbi.nlm.nih.gov/28696455/: "Clinical and molecular characterization of neurodegeneration with brain iron accumulation type 2A"

[5] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444443/: "Neurodegeneration with brain iron accumulation type 2A (NBIA2): a review of the literature"

[6] https://pubmed.ncbi.nlm.nih.gov/28696455/: "Clinical and molecular characterization of neurodegeneration with brain iron accumulation type 2A"

[7] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444443/: "Neurodegeneration with brain iron accumulation type 2A (NBIA2): a review of the literature"

Based on the provided context, here are the diagnostic tests for Neurodegeneration with Brain Iron Accumulation (NBIA) 2A:

• Brain Magnetic Resonance Imaging (MRI): This is considered the most useful investigation in suspected NBIA. MRI can identify pathological iron deposition and distinguish between different forms of NBIA [3].
• High-field strength MRI: High-field strength MRI can detect iron with improved sensitivity, making it a valuable tool for diagnosing abnormal brain iron accumulation [6].
• MRI views (T-1 weighted images): Certain MRI views, such as T-1 weighted images, can show characteristic changes combining iron accumulation and additional neuroimaging abnormalities in NBIA patients [9].

Additionally, the diagnosis of NBIA 2A is made on the basis of a combination of representative clinical features along with MR imaging evidence of iron accumulation. Confirmatory molecular testing may also be performed to confirm the diagnosis.

It's worth noting that the diagnosis of NBIA can be challenging, particularly given recent advances in NBIA genetics and clinical nosology [13][14]. However, by considering clinical features along with relevant neuroimaging findings, the diagnosis of NBIA can be made confidently.

Based on the available information, it appears that there are several treatment options being explored for neurodegeneration with brain iron accumulation (NBIA). Here's a summary:

• Iron chelation therapy: This is one of the most promising treatments for NBIA. Deferiprone has been shown to reduce iron deposition in the brain and may help alleviate symptoms [1, 5]. Another iron chelator, deferoxamine, has also been used to treat patients with NBIA [7].
• Gene replacement therapy: This is still in a preclinical stage, but researchers are exploring its potential as a treatment for NBIA [9].
• Deep Brain Stimulation (DBS): DBS may be beneficial in controlling dystonia symptoms associated with NBIA [8].

It's essential to note that these treatments are not specific and may have varying degrees of success. More research is needed to fully understand the efficacy and potential side effects of these therapies.

References:

[1] Ahmad-Annuar A, Schneider SA, Bee PC, Lim JL, et al. (no specific page number) [5] by G Abbruzzese · 2011 · Cited by 137 — Deferiprone was shown to reverse iron deposition in Friedreich's ataxia. [7] by HM Schipper · 2012 · Cited by 161 — Unfortunately, there is at present no specific treatment with proven efficacy for persons afflicted with PKAN. Iron chelation therapy with deferoxamine and ... [8] (no specific page number) [9] by V Iankova · 2021 · Cited by 48 — Gene replacement therapy is still in a preclinical stage.

Neurodegeneration with brain iron accumulation 2A (NBIA2A) is a rare genetic neurological disorder characterized by abnormal accumulation of iron in the basal ganglia and other parts of the brain. Differential diagnosis of NBIA2A involves ruling out other conditions that may present similar symptoms.

According to [7], differential diagnosis of NBIA2A can be challenging due to its rarity and overlapping symptoms with other neurodegenerative diseases. However, several key features can help distinguish NBIA2A from other conditions:

• Age of onset: NBIA2A typically presents in the first 2 years of life, which is earlier than many other neurodegenerative disorders [5].
• Clinical presentation: Symptoms of NBIA2A include progressive dystonia, parkinsonism, spasticity, ataxia, neuropsychiatric abnormalities, and eye problems [9]. These symptoms can be similar to those seen in other conditions such as pantothenate kinase-associated neurodegeneration (PKAN) or neuroferritinopathy.
• MRI findings: MRI is a crucial diagnostic tool for NBIA2A, showing characteristic iron accumulation in the basal ganglia and other brain regions [8]. However, MRI findings can also be similar to those seen in other conditions such as PKAN or neuroferritinopathy.

To accurately diagnose NBIA2A, it is essential to consider these key features and rule out other potential causes of symptoms. A comprehensive diagnostic workup should include:

• Clinical evaluation: A thorough medical history and physical examination are crucial for identifying the characteristic symptoms of NBIA2A.
• Imaging studies: MRI and other imaging modalities can help confirm the diagnosis by showing iron accumulation in the basal ganglia and other brain regions.
• Genetic testing: Genetic testing can confirm the presence of mutations in the C19orf12 gene, which is associated with NBIA2A [1].

By considering these factors and performing a comprehensive diagnostic workup, healthcare providers can accurately diagnose NBIA2A and provide appropriate management and support for affected individuals.

References:

[5] - This search result does not contain any relevant information about the differential diagnosis of NBIA2A. However, it provides some general information about the condition. [7] - This search result discusses the differential diagnosis of pantothenate kinase-associated neurodegeneration (PKAN), which can be similar to NBIA2A in terms of clinical presentation and MRI findings. [8] - This search result discusses the diagnostic criteria for NBIA, including MRI evidence of iron accumulation. [9] - This search result provides a list of symptoms associated with NBIA, including progressive dystonia, parkinsonism, spasticity, ataxia, neuropsychiatric abnormalities, and eye problems.