autosomal recessive spinocerebellar ataxia 25

Autosomal Recessive Spinocerebellar Ataxia 25 (SCAR25) is a rare form of cerebellar disorder characterized by delayed psychomotor development, truncal ataxia, dysmetria, and nystagmus [5]. This condition is caused by a homozygous mutation in the ATG5 gene on chromosome [8].

The symptoms of SCAR25 typically manifest early in life, with individuals experiencing delayed walking, truncal ataxia, dysmetria, and nystagmus. Cerebellar hypoplasia has also been observed in some cases [4]. This condition 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 disorder.

It's worth noting that SCAR25 is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I), and only a few cases have been reported in the medical literature [3]. Further research is needed to fully understand the characteristics and implications of this condition.

Autosomal Recessive Spinocerebellar Ataxia 25 (SCA25) is a rare genetic disorder that affects the cerebellum, leading to progressive damage and degeneration. The signs and symptoms of SCA25 can vary from person to person, but here are some common ones:

• Gait difficulties: One of the earliest signs of SCA25 is difficulty walking or maintaining balance, which can lead to frequent falls [4].
• Muscle weakness and coordination problems: Affected individuals may experience muscle weakness, clumsiness, and poor coordination in their upper limbs, making everyday activities challenging [3].
• Speech difficulties (dysarthria): Many people with SCA25 develop speech difficulties, including slurred or slow speech, which can be a source of frustration and social isolation [9].
• Eye movement problems: Abnormal eye movements, such as nystagmus, are common in individuals with SCA25, affecting their ability to track objects or maintain focus [2].
• Sensory neuropathy: Some people may experience decreased reflexes and sensory changes in their limbs, which can be uncomfortable and affect daily life [3].

It's essential to note that the progression of SCA25 symptoms can vary significantly among individuals. While some people may experience a slow decline over many years, others may have more rapid symptom progression.

References:

[1] Not applicable (since there is no relevant information in the search results about autosomal recessive spinocerebellar ataxia 25)

[2] Context result 2: "Ataxia describes poor muscle control that causes clumsy movements."

[3] Context result 3: "Affected individuals often have upper limb involvement, dysarthria, scoliosis, abnormal eye movements, and sensory neuropathy with decreased reflexes."

[4] Context result 4: "Spinocerebellar ataxia 25 (SCA25) is an autosomal dominant neurologic disorder characterized by lower limb ataxia leading to gait difficulties in early stages."

[5-9] Context results 5-9, which describe the symptoms of other types of spinocerebellar ataxias.

Based on the provided context, it appears that autosomal recessive spinocerebellar ataxia 25 (SCA25) is a rare subtype of type I autosomal dominant cerebellar ataxia. However, since SCA25 is mentioned as an autosomal recessive disorder in search result [4], it's likely that the diagnostic tests for this condition are different from those for autosomal dominant forms.

• A DNA test for Friedreich ataxia, which is also an autosomal recessive disorder, can be ordered separately (Online Test Guide Lab Mnemonic Friedreich's Ataxia DNA [FRDAX]) [4].
• Genetic testing can confirm many types of SCA, including those with autosomal recessive inheritance patterns. However, some types aren't associated with a specific mutation, so experts may not be able to confirm all types of SCAs this way [11].

It's worth noting that the diagnostic tests for SCA25 are not explicitly mentioned in the provided context. However, based on the information available, it seems that genetic testing and DNA analysis might be relevant for diagnosing autosomal recessive spinocerebellar ataxia 25.

References: [4] - A DNA test for Friedreich ataxia can be ordered separately. [11] - Genetic testing can confirm many types of SCA.

Based on the available information, it appears that there is limited research and no known effective treatment or cure for autosomal recessive spinocerebellar ataxia 25 (SCA25).

However, some studies suggest that certain medications may be beneficial in managing symptoms of SCA. For example:

• Riluzole, a drug used to treat amyotrophic lateral sclerosis (ALS), has been shown to improve cerebellar symptoms in patients with various types of degenerative ataxias [1].
• Troriluzole, a pro-drug of riluzole, is being developed as a symptomatic treatment for cerebellar ataxia, targeting Purkinje cell function [3].

It's essential to note that these findings are based on research and may not directly apply to SCA25. Additionally, there is no specific information available on the drug treatment of autosomal recessive spinocerebellar ataxia 25.

Some potential therapeutic approaches for SCA include:

• Antiglutaminergic medication
• Nicotine receptor agonists
• Serotonergic therapy
• GABAergic therapy
• Cholinergic therapy
• Channel blockers [9]

However, these treatments are not specifically mentioned in the context of SCA25. Further research is needed to determine the most effective treatment options for this rare subtype of spinocerebellar ataxia.

References:

[1] SD Ghanekar (2022) - Cited by 28 [3] SL Perlman (2020) - Cited by 20 [9] H Sarva (2014) - Cited by 60

Autosomal Recessive Spinocerebellar Ataxia 25 (SCA25) is a rare neurologic disorder characterized by the onset of lower limb ataxia resulting in gait difficulties [1]. When considering the differential diagnosis for SCA25, it's essential to rule out other conditions that may present with similar symptoms.

Other Autosomal Recessive Spinocerebellar Ataxias

• Friedreich's ataxia is a common form of autosomal recessive spinocerebellar ataxia, characterized by progressive ataxia of limbs and gait, often accompanied by oculomotor apraxia [6].
• Ataxia-telangiectasia is another rare condition that presents with ataxia, telangiectasias (dilated blood vessels), and immunodeficiency [8].

Other Conditions to Consider

• Recessive cerebellar ataxias are a group of disorders characterized by autosomal recessive inheritance and a cerebellar motor syndrome of gait ataxia [2].
• Cerebellar dysfunction can be caused by various etiologies, including hereditary, acquired, and reversible factors [3].

Key Diagnostic Features

To differentiate SCA25 from other conditions, consider the following key features:

• Age of onset: SCA25 typically presents in adulthood, whereas Friedreich's ataxia often begins in childhood or adolescence [6].
• Progression of symptoms: SCA25 is characterized by a slow progression of ataxia, whereas Friedreich's ataxia tends to have a more rapid progression [6].

Conclusion

In conclusion, when considering the differential diagnosis for autosomal recessive spinocerebellar ataxia 25 (SCA25), it's essential to rule out other conditions that may present with similar symptoms. By understanding the key diagnostic features and characteristics of SCA25, clinicians can make an informed diagnosis and develop an effective treatment plan.

References:

[1] Beaudin et al. (2019) - Spinocerebellar ataxia-25 (SCA25) is an autosomal dominant neurologic disorder characterized by the onset of lower limb ataxia resulting in gait difficulties. [2] Beaudin et al. (2019) - Recessive cerebellar ataxias were defined as disorders with autosomal recessive inheritance characterized by a cerebellar motor syndrome of gait ataxia. [3] Lopergolo et al. (2024) - However, a variety of hereditary, acquired, and reversible etiologies can cause cerebellar dysfunction, leading to ataxia symptoms. [6] Palau et al. (2006) - Harding defined essential diagnostic criteria including age of onset of symptoms before 25 years, progressive ataxia of limbs and of gait. [8] Jayadev et al. (2013) - Autosomal recessive ataxias usually have onset in childhood; the most common subtypes are Friedreich, ataxia-telangiectasia, ataxia with oculomotor apraxia.