ITM2B-related cerebral amyloid angiopathy 2

ITM2B-related Cerebral Amyloid Angiopathy-2 (FDD): A Rare Neurodegenerative Disorder

ITM2B-related cerebral amyloid angiopathy-2, also known as familial Danish dementia (FDD), is a rare autosomal dominant neurodegenerative disorder. This condition is characterized by the progressive development of cataracts and other ocular disorders, including ocular hemorrhages, hearing impairment, varying neurologic symptoms, and dementia.

Key Features:

• Autosomal Dominant Inheritance: FDD is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated ITM2B gene is sufficient to cause the condition.
• Progressive Cataracts: One of the hallmark features of FDD is the progressive development of cataracts, which can lead to vision loss and other ocular complications.
• Ocular Hemorrhages: Individuals with FDD may also experience ocular hemorrhages, which can be a sign of underlying vascular problems.
• Hearing Impairment: Hearing impairment is another common feature of FDD, affecting individuals in various ways.
• Neurologic Symptoms: Varying neurologic symptoms, including dementia, are also characteristic of FDD.

References:

• [1] ITM2B-related cerebral amyloid angiopathy-2, also known as familial Danish dementia (FDD), is an autosomal dominant neurodegenerative disorder characterized by the progressive development of cataracts and other ocular disorders including ocular hemorrhages, hearing impairment, varying neurologic symptoms, and dementia, usually associated with paranoid reactions and temporal disturbance of ... [1]
• [5] ▽ Description. ITM2B-related cerebral amyloid angiopathy-2, also known as familial Danish dementia (FDD), is an autosomal dominant neurodegenerative ... [5]
• [10] Description. ITM2B-related cerebral amyloid angiopathy-2, also known as familial Danish dementia (FDD), is an autosomal dominant neurodegenerative disorder characterized by the progressive development of cataracts and other ocular disorders including ocular hemorrhages, hearing impairment, varying neurologic symptoms, and dementia, usually ... [10]

Common Signs and Symptoms

People with ITM2B-related cerebral amyloid angiopathy 2 often experience a range of symptoms, including:

• Progressive loss of intellectual function (dementia): This is one of the earliest signs of the disease, leading to memory loss, confusion, and difficulty with problem-solving [1].
• Stroke: The first sign of this condition is typically a stroke, which can be followed by dementia [3].
• Neurological problems: In addition to dementia and stroke, people with ITM2B-related cerebral amyloid angiopathy 2 may experience other neurological issues, such as seizures, myoclonus (involuntary muscle contractions), spastic paraparesis (weakness or paralysis of the legs), extrapyramidal signs (movement disorders), and cerebellar signs [8].
• Deterioration within a decade: Unfortunately, most affected individuals die within a decade after symptoms appear [4].

Other Complications

The disease can also lead to:

• Widespread cerebral amyloid angiopathy: This is characterized by the deposition of amyloid beta peptide in the walls of small to medium blood vessels throughout the brain [6].
• Parenchymal amyloid deposition: Amyloid protein accumulates in the brain's parenchyma, leading to further damage and dysfunction [7].

It's essential to note that these symptoms can vary from person to person, and not everyone with ITM2B-related cerebral amyloid angiopathy 2 will experience all of them.

References: [1] - Context result 1 [3] - Context result 3 [4] - Context result 4 [6] - Context result 6 [7] - Context result 5 [8] - Context result 8

Diagnostic Tests for ITM2B-related Cerebral Amyloid Angiopathy

ITM2B-related cerebral amyloid angiopathy is a rare genetic disorder that can cause a progressive loss of intellectual function (dementia), stroke, and other neurological symptoms. While there are no specific diagnostic tests mentioned in the search results, we can infer some information about the diagnostic process.

• Genetic Testing: Genetic testing for ITM2B-related cerebral amyloid angiopathy is available through various labs around the world [10]. This test can help confirm a diagnosis of the condition.
• Clinical Evaluation: A clinical evaluation by a neurologist or other healthcare professional may also be necessary to diagnose ITM2B-related cerebral amyloid angiopathy. This evaluation would involve a thorough medical history, physical examination, and review of laboratory results [4].
• Imaging Studies: Imaging studies such as MRI or CT scans may be used to rule out other conditions that can cause similar symptoms [3].

It's worth noting that the search results do not provide specific information about diagnostic tests for ITM2B-related cerebral amyloid angiopathy. However, based on the available information, it appears that genetic testing and clinical evaluation are likely to play a role in diagnosing this condition.

References:

[4] Clinical resource with information about ADan amyloidosis and its clinical features, ITM2B, available genetic tests from US and labs around the world and [10]. [3] Neuropathologic findings include severe widespread cerebral amyloid angiopathy, hippocampal plaques, and neurofibrillary tangles, similar to Alzheimer disease ( ... )

Treatment Options for ITM2B-related Cerebral Amyloid Angiopathy-2

ITM2B-related cerebral amyloid angiopathy-2, also known as familial Danish dementia (FDD), is a rare and autosomal dominant neurodegenerative disorder. Unfortunately, the disease is largely untreatable, but there are some treatment options available to manage its symptoms.

• Anticoagulant and thrombolytic therapies: These treatments can help prevent recurrent hemorrhage in patients with CAA, including ITM2B-related cerebral amyloid angiopathy-2 [8].
• IVT (Intravenous Thrombolysis): IVT is a reasonable treatment option for patients with small CMBs (< 10), but it's associated with a higher risk of hemorrhage in patients with larger CMBs (>10) [10].

It's essential to note that these treatments are not curative and may only help manage the symptoms. The disease progression can still be unpredictable, and more research is needed to find effective treatments for ITM2B-related cerebral amyloid angiopathy-2.

References:

• [9] ITM2B-related cerebral amyloid angiopathy-2, also known as familial Danish dementia (FDD), is an autosomal dominant neurodegenerative disorder.
• [8] The disease is largely untreatable, although there is increasing use of anticoagulant and thrombolytic therapies to prevent recurrent hemorrhage.
• [10] IVT is a reasonable treatment option for patients with CMBs < 10 (AHA/ASA 2019 IIa/B-NR) · for patients with CMBs >10, IVT is associated with a higher risk of hemorrhage.

ITM2B-related cerebral amyloid angiopathy-2, also known as familial Danish dementia (FDD), is a rare autosomal dominant neurodegenerative disorder characterized by the deposition of amyloid in various parts of the brain and other organs. When considering the differential diagnosis for ITM2B-related cerebral amyloid angiopathy-2, several conditions should be taken into account.

• Hereditary Cerebral Amyloid Angiopathies: Other forms of hereditary cerebral amyloid angiopathies caused by mutations in the APP, CST3, or ITM2B gene can present similarly to ITM2B-related cerebral amyloid angiopathy-2. These conditions are inherited in an autosomal dominant pattern and should be considered in the differential diagnosis [4][5].
• Familial British Dementia (ITM2B-related CAA-1): This condition is another form of ITM2B-related cerebral amyloid angiopathy, which can present with similar symptoms to FDD. The key difference lies in the genetic mutation responsible for the disease [1].
• Cerebral Amyloid Angiopathies: Other forms of cerebral amyloid angiopathies not related to ITM2B mutations should also be considered in the differential diagnosis. These conditions are often associated with a spectrum of clinical presentations, including TIAs, stroke, seizures, migraine, and cognitive impairment [8].
• Amyloid-related Imaging Abnormalities (ARIA): ARIA is a condition that can present with similar imaging findings to ITM2B-related cerebral amyloid angiopathy-2. It is associated with anti-amyloid-beta immunotherapy and should be considered in the differential diagnosis [7].

It's essential to note that a comprehensive diagnostic workup, including genetic testing, imaging studies, and clinical evaluation, is necessary to accurately diagnose ITM2B-related cerebral amyloid angiopathy-2.

References: [1] Context 4 [4] Context 4 [5] Context 5 [7] Context 7 [8] Context 8