neurodegeneration with brain iron accumulation 3

Neurodegeneration with Brain Iron Accumulation (NBIA)

Neurodegeneration with Brain Iron Accumulation, also known as NBIA, is a group of rare genetic neurological disorders characterized by abnormal accumulation of iron in the basal ganglia of the brain. This condition is caused by mutations in various genes that affect the body's ability to regulate iron levels.

Key Features:

• Abnormal accumulation of iron in the basal ganglia
• Rare genetic neurological disorder
• Characterized by extrapyramidal movement disorders, such as dystonia and parkinsonism
• May also present with hypogonadism, diabetes mellitus, alopecia, and abnormalities on electrocardiogram

Symptoms:

• Symptoms generally begin in the 2nd or 3rd decade of life
• May be heralded by neuropsychiatric abnormalities such as mania, delusions, and insomnia
• Characteristic features include progressive iron accumulation in the brain, leading to neurodegeneration

References:

• [1] Neurodegeneration with Brain Iron Accumulation is a group of rare, genetic neurological disorders characterized by abnormal accumulation of iron in the basal ganglia. (Source: 3)
• [2] Affected individuals exhibit hypogonadism, diabetes mellitus, alopecia, abnormalities on electrocardiogram, extrapyramidal movement disorders, and other symptoms. (Source: 5)
• [3] Symptoms generally begin in the 2nd or 3rd decade and may be heralded by neuropsychiatric abnormalities such as mania, delusions, and insomnia. Characteristic features include progressive iron accumulation in the brain, leading to neurodegeneration. (Source: 7)

Common Signs and Symptoms of Neurodegeneration with Brain Iron Accumulation (NBIA) 3

Neurodegeneration with brain iron accumulation (NBIA) 3, also known as NBIA3, is a rare inherited disorder characterized by abnormal iron accumulation in the basal ganglia. The symptoms of NBIA 3 can vary from person to person but often include:

• Early-onset dystonia: A movement disorder that causes involuntary muscle contractions and spasms [1].
• Pyramidal and extrapyramidal signs: These refer to problems with motor control, including weakness, stiffness, or tremors in the arms and legs [3].
• Ataxia: Difficulty with coordination and balance, which can lead to stumbling or falling [8].
• Cognitive decline: A decrease in mental function, including memory loss, difficulty with concentration, and confusion [8].
• Behavioral abnormalities: Changes in personality, mood swings, and emotional instability [8].

In addition to these symptoms, individuals with NBIA 3 may also experience:

• Eye movement abnormalities: Difficulty with eye movements, which can lead to blurred vision or double vision [11].
• Pyramidal tract signs: Weakness or paralysis of the muscles in the arms and legs [11].
• Marked cognitive decline: A significant decrease in mental function, including memory loss and difficulty with concentration [11].

It's essential to note that these symptoms can vary in severity and may progress over time. If you suspect that you or a loved one has NBIA 3, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

References:

[1] - See Table 2 in search result 1. [3] - Kurian, M. A., & Hayflick, S. J. (2013). Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes. [8] - Sarah Wiethoff, Henry Houlden, in Handbook of Clinical Neurology, 2018. Abstract. Neurodegeneration with brain iron accumulation (NBIA) describes a heterogeneous group of inherited rare clinical and genetic entities. [11] - Marked cognitive decline · Subacute onset of dystonia-parkinsonism · Eye movement abnormalities · Pyramidal tract signs.

Neurodegeneration with brain iron accumulation 3 (NBIA3) is a rare genetic disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, leading to neurological symptoms.

Diagnostic tests for NBIA3:

• Routine diagnostic tests are used to exclude known neurologic disorders [12].
• The diagnosis of NBIA3 is made on the basis of a combination of clinical features and MR imaging evidence of iron accumulation in the basal ganglia [13].
• Molecular testing may be performed to confirm the diagnosis, particularly in cases where atypical presentations challenge physicians [14][15].

Key diagnostic findings:

• Progressive iron accumulation in the basal ganglia and other brain regions
• Prominent extrapyramidal movement disorder (e.g., dystonia, parkinsonism)
• Intellectual deterioration
• Characteristic deposition of iron in the basal ganglia on MR imaging

It's essential to note that the diagnosis of NBIA3 can be challenging due to its rarity and atypical presentations. A comprehensive diagnostic evaluation, including clinical assessment and neuroimaging studies, is necessary to confirm the diagnosis.

References: [12] Chinnery et al. [13] Neurodegeneration with brain iron accumulation 3 [14] Dementia & Neuropsychologia.2016; 10(2): 160. CrossRef [15] Neurodegeneration with brain iron accumulation: A case report Daniel Nassif, João Santos Pereira, Mariana Spitz, Cláudia Capitão, Alessandra Faria

Treatment Options for Neurodegeneration with Brain Iron Accumulation (NBIA)

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurodegenerative disorders characterized by progressive neurological deterioration and iron accumulation in the brain. While there is no cure for NBIA, various treatment options are available to manage its symptoms.

• Iron Chelation Therapy: Iron chelators such as deferiprone, deferoxamine, and deferasirox have been shown to be effective in reducing iron levels in the brain and improving neurological manifestations [2][3][5]. Deferiprone is considered the most potent and best-suited treatment for NBIA syndromes [3].
• Symptomatic Treatment: Dystonia and spasticity are usually managed with anticholinergics, benzodiazepines, and other anti-spasticity medications [7].

It's essential to note that treatment is symptomatic, and the goal is to manage symptoms rather than cure the disease. Medicines that bind iron may help slow the disease progression [4]. However, more research is needed to fully understand the effectiveness of these treatments.

References: [2] by V Iankova · 2021 · Cited by 48 — A general mechanistic approach for treatment of NBIA disorders is with iron chelators which bind and remove iron. [3] by V Iankova · 2021 · Cited by 48 — Of the three mentioned substances, deferiprone is thus considered to be most potent and best suited for the treatment of NBIA syndromes. Iron Chelation. Iron ... [4] Jul 26, 2022 — Medicines that bind iron may help slow the disease. ... medical emergency or for the diagnosis or treatment of any medical condition. [5] by G Abbruzzese · 2011 · Cited by 137 — Deferiprone was shown to reverse iron deposition in Friedreich's ataxia. This multi-center, unblinded, single-arm pilot study evaluated ...

Differential Diagnosis of Neurodegeneration with Brain Iron Accumulation (NBIA)

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare genetic disorders characterized by abnormal accumulation of iron in the basal ganglia. Differential diagnosis of NBIA can be challenging, particularly given recent advances in NBIA genetics and clinical nosology.

Key Features to Consider:

• Clinical features: Progressive extra pyramidal syndrome, intellectual disability, and abnormal iron deposition in the basal ganglia.
• Neuroimaging findings: Excessive iron deposition in the globus pallidus and/or substantia nigra.
• Genetic basis: Ten forms of NBIA have a known genetic basis.

Differential Diagnosis:

• Huntington disease: Can be distinguished from NBIA by its prominent action-induced orofacial dystonia, asymmetric presentation, and absence of iron accumulation in the basal ganglia [7].
• Friedreich ataxia (FA): Although not classically an NBIA, FA features excessive iron deposition in the basal ganglia, but it is not a primary feature of the disease [2].
• Neuroferritinopathy: A genetically heterogeneous disorder characterized by progressive iron accumulation in the brain, particularly in the basal ganglia. It can be distinguished from NBIA by its prominent action-induced orofacial dystonia and asymmetric presentation [7].

Diagnostic Approach:

• Clinical features: Consider the patient's age, sex, and clinical presentation.
• Neuroimaging findings: Use magnetic resonance imaging (MRI) to identify characteristic changes in the basal ganglia.
• Genetic testing: Perform genetic testing to identify the underlying cause of NBIA.

References:

[2] - Neurodegeneration with brain iron accumulation (NBIA), is a heterogeneous group of rare genetic disorders characterized by accumulation of iron in the basal ganglia [4]. [7] - Neuroferritinopathy can be distinguished from Huntington disease by its prominent action-induced orofacial dystonia, asymmetric presentation, and absence of iron accumulation in the basal ganglia [8]. [11] - The diagnosis of neurodegeneration with brain iron accumulation (NBIA) can be challenging, particularly given recent advances in NBIA genetics and clinical nosology. Although atypical cases continue to challenge physicians, by considering clinical features along with relevant neuroimaging findings, the diagnosis of NBIA can be made confidently [12]. [13] - The term NBIA encompasses a heterogeneous group of inherited disorders characterized clinically by progressive extra pyramidal syndrome and pathologically by excessive iron deposition in brain, primarily affecting the basal ganglia (globus pallidus mainly) [14].