hereditary spastic paraplegia 85

Hereditary Spastic Paraplegia 85 (SPG85) is a rare neurodegenerative disorder characterized by the onset of motor symptoms in the first few years of life [1,2,5,12]. The primary features of SPG85 include:

• Spasticity and hyperreflexia: Affected individuals exhibit spasticity and hyperreflexia of the lower limbs, leading to gait abnormalities [1,2,5,12].
• Progressive weakness: As the disease progresses, patients may experience progressive weakness in their lower limbs.
• Upper limb involvement: Older patients with SPG85 may also develop upper limb involvement, including axonal polyneuropathy [12].

SPG85 is a form of hereditary spastic paraplegia (HSP), which is a group of inherited disorders characterized by progressive weakness and spasticity in the lower limbs [13]. The disease is caused by mutations in specific genes that affect the function of various cellular components, leading to the accumulation of certain glycosphingolipids and gangliosides in lysosomes [11].

It's worth noting that SPG85 is a rare form of HSP, and more research is needed to fully understand its characteristics and progression.

Hereditary spastic paraplegia (HSP) presents a range of symptoms that can vary in severity and impact different parts of the body. The primary signs and symptoms include:

• Spastic leg paresis: This is characterized by progressive gait difficulty, hyperreflexia, clonus, and extensor plantar responses.
• Progressive gait difficulty: As the condition advances, walking becomes increasingly challenging due to muscle weakness and stiffness in the legs.
• Hyperreflexia: Exaggerated reflexes are a common symptom of HSP, particularly in the lower limbs.
• Clonus: Muscle spasms or twitching can occur in the legs, making leg movements stiff and jerky when walking.
• Extensor plantar responses: This is a specific type of reflex abnormality that can be observed in individuals with HSP.

In some cases, the arms may also be affected, with symptoms such as:

• Mild upper limb weakness: Weakness or poor coordination in the upper limbs can occur, particularly in older patients.
• Increased reflexes: The arms may experience increased reflexes, which are usually the only sign of involvement.
• Vibratory and position sense diminished: In half of patients, there is a reduction in vibratory and position sense in the arms.

It's essential to note that sensation and sphincter function are usually spared in individuals with HSP. The symptoms can begin at any age, from infancy to old age, depending on the specific form of the condition.

References:

• [3] Symptoms and signs of hereditary spastic paraplegia include spastic leg paresis, with progressive gait difficulty, hyperreflexia, clonus, and extensor plantar responses. Sensation and sphincter function are usually spared. The arms may also be affected. Deficits are not localized to a spinal cord segment.
• [7] Symptoms and signs of hereditary spastic paraplegia include spastic leg paresis, with progressive gait difficulty, hyperreflexia, clonus, and extensor plantar responses. Sensation and sphincter function are usually spared. The arms may also be affected. Deficits are not localized to a spinal cord segment.
• [13] Weakness most commonly occurs in the lower limbs, but mild upper limb weakness may also occur. The upper limbs may also experience poor coordination and ...
• [14] Increased reflexes are usually the only sign of involvement of the arms. Vibratory and position sense are diminished in half of patients.

Hereditary Spastic Paraplegia (HSP) 85, also known as Autosomal Recessive Spastic Paraplegia-85 (SPG85), is a rare genetic disorder that affects the nervous system. Diagnostic tests for HSP 85 are crucial in confirming the clinical diagnosis and ruling out other potential causes of symptoms.

Genetic Testing Genetic testing is often helpful to confirm the clinical diagnosis of HSP 85 [8]. This type of test can identify mutations in the gene responsible for the condition, which is essential for a definitive diagnosis. The Invitae Hereditary Spastic Paraplegia Comprehensive Panel analyzes genes associated with hereditary spastic paraplegia (HSP), including those that may be linked to HSP 85 [10].

Exome Sequencing Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia, including HSP 85 [3][7]. This test can identify genetic mutations in the exons of genes, which are the coding regions responsible for protein production.

Clinical Evaluation A clinical evaluation by a neurologist or other healthcare professional is essential to diagnose HSP 85. This involves a thorough medical and family history, neurological examination, and exclusion of alternative differential diagnoses [5].

Other Diagnostic Tests While not specifically mentioned in the context provided, other diagnostic tests such as imaging studies (e.g., MRI) and electromyography may be used to support the diagnosis of HSP 85.

In summary, diagnostic tests for hereditary spastic paraplegia 85 include genetic testing, exome sequencing, clinical evaluation, and potentially other diagnostic tests. These tests can help confirm the diagnosis and rule out other potential causes of symptoms.

References: [3] Bettencourt C, López-Sendón JL, García-Caldentey J ... (2014) [7] Exome Sequencing for Hereditary Spastic Paraplegia [8] Genetic Testing for HSP 85 [10] Invitae Hereditary Spastic Paraplegia Comprehensive Panel

Hereditary Spastic Paraplegia (HSP) is a group of genetic conditions that cause muscle weakness and tightness in the legs, and there isn't a cure available for it. However, treatment can help manage symptoms.

Medications:

• Muscle relaxants such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed to reduce spasticity [3][8].
• Botulinum toxin injections or anesthetics may be used to relieve muscle spasms and pain [7][8].

Other treatments:

• Physical therapy can help maintain mobility and strength in the affected limbs [7].
• Rehabilitation therapy, such as occupational and speech therapy, may also be necessary due to global developmental delays and seizures that often accompany HSP [4].

It's essential to note that these treatments are aimed at managing symptoms rather than curing the condition. The effectiveness of these medications can vary from person to person, and it's crucial to consult a doctor or pharmacist for personalized advice on potential side effects and contraindications [10].

Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically diverse disorders that share a primary feature, which is the causation of progressive and generally severe lower extremity weakness and spasticity. When considering the differential diagnosis of HSP, several conditions need to be taken into account.

Conditions to Consider in Differential Diagnosis:

• Machado-Joseph Disease (SCA3): A rare autosomal dominant disorder that affects the cerebellum and spinal cord, leading to ataxia, spasticity, and other neurological symptoms.
• X-Linked Recessive Complicated HSP: A form of HSP characterized by mental retardation, optic atrophy, athetosis, amyotrophy, and other complications.
• Structural Abnormalities of the Brain and Spinal Cord: Conditions such as syringomyelia, Chiari malformation, or spinal cord tumors can mimic HSP symptoms.
• Inborn Errors of Metabolism: Certain metabolic disorders, like adrenoleukodystrophy or Krabbe disease, can present with spastic diplegia, mimicking cerebral palsy.

Key Features to Consider:

• Age of onset and progression of symptoms
• Presence of upper limb involvement
• Cognitive impairment or intellectual disability
• Ataxia, seizures, or other neurological symptoms

Investigations and Diagnostic Tools:

• Clinical history and neurologic examination
• Neuroimaging (MRI) studies of the brain and spinal cord
• Molecular genetic testing to identify specific HSP-causing genes
• Exclusion of alternative differential diagnoses through thorough evaluation