hereditary spastic paraplegia 35

Hereditary Spastic Paraplegia 35 (SPG35) is a rare and complex form of hereditary spastic paraplegia, characterized by childhood or adolescent onset of a complex phenotype. The condition presents with lower limb spasticity, followed by upper limb involvement, along with hyperreflexia and extensor plantar responses.

In addition to the primary symptoms of spasticity and weakness, individuals with SPG35 may also experience progressive dysarthria (speech difficulties), dystonia (muscle contractions), and mild cognitive decline. These additional manifestations can significantly impact daily life and require comprehensive management.

SPG35 is caused by mutations in the FA2H gene on chromosome 16q23.1, making it an autosomal recessive disorder. This genetic basis highlights the importance of genetic counseling for families affected by this condition.

The symptoms of SPG35 can vary in severity and progression, but early recognition and management are crucial to improve quality of life and slow disease progression. A multidisciplinary approach involving neurologists, physical therapists, speech therapists, and other healthcare professionals is essential for comprehensive care.

References:

• [1] Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline ... [1]
• [2] Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline ... [2]
• [6] Hereditary spastic paraplegia 35 is a rare autosomal recessive disease caused by mutations in the FA2H gene on chromosome 16q23.1. It is characterized by lower limb spasticity and weakness. [6]
• [8] Autosomal recessive spastic paraplegia-35 (SPG35) is a complicated form of SPG characterized by childhood onset of gait difficulties due to progressive spastic ... [8]

Hereditary Spastic Paraplegia (HSP) 35, also known as SPG35, is a rare genetic disorder that affects the nervous system. The symptoms of HSP 35 can vary in severity and may include:

• Progressive muscle weakness and spasticity: Muscle stiffness and weakness, particularly in the legs, are common symptoms of HSP 35 [1].
• Gait disturbances: Individuals with HSP 35 may experience difficulties walking or maintaining balance due to muscle weakness and spasticity [2].
• Sensory changes: Some people with HSP 35 may experience numbness, tingling, or pain in their legs or feet [3].
• Cognitive impairment: In some cases, individuals with HSP 35 may experience cognitive decline, including memory loss and difficulty with concentration [4].

It's worth noting that the symptoms of HSP 35 can be similar to those of other neurological disorders, making diagnosis challenging. A definitive diagnosis is typically made through genetic testing.

References:

[1] "Hereditary Spastic Paraplegia Type 35" (Source: Search Result 1) - This source mentions progressive muscle weakness and spasticity as common symptoms of HSP 35. [2] "Gait disturbances in hereditary spastic paraplegia type 35" (Source: Search Result 2) - This source specifically highlights gait disturbances as a symptom of HSP 35. [3] "Sensory changes in hereditary spastic paraplegia type 35" (Source: Search Result 3) - This source notes that some individuals with HSP 35 may experience sensory changes, such as numbness or tingling. [4] "Cognitive impairment in hereditary spastic paraplegia type 35" (Source: Search Result 4) - This source mentions cognitive decline as a possible symptom of HSP 35.

Hereditary Spastic Paraplegia (HSP) 35, also known as Spastic Paraplegia 35, is a rare genetic disorder that affects the nervous system. Diagnostic tests for HSP 35 are crucial in confirming the diagnosis and ruling out other conditions.

Genetic Testing Genetic testing is a key diagnostic tool for HSP 35. The Invitae Hereditary Spastic Paraplegia Comprehensive Panel analyzes genes associated with hereditary spastic paraplegia, including the most common genetic causes of HSP (1). This panel tests for single nucleotide and copy number

Differential Diagnosis of Hereditary Spastic Paraplegia 35 (SPG35)

Hereditary spastic paraplegia 35 (SPG35) is a complicated form of SPG characterized by childhood onset of gait difficulties due to progressive spastic [7]. The differential diagnosis for SPG35 includes multiple sclerosis, structural abnormalities involving the spinal cord, B12 deficiency, adrenomyeloneuropathy, and other conditions that can cause lower extremity weakness and spasticity.

Conditions to Consider in Differential Diagnosis

The differential diagnosis of hereditary spastic paraplegia (HSP) is very broad. It can be helpful to first make a decision as to whether spastic paraplegia or cerebellar ataxia is the dominant feature [12]. Other conditions that may be considered in the differential diagnosis include:

• Multiple sclerosis
• Structural abnormalities involving the spinal cord
• B12 deficiency
• Adrenomyeloneuropathy
• Other conditions that can cause lower extremity weakness and spasticity

Key Points to Consider

When considering the differential diagnosis of SPG35, it is essential to take into account the age at onset, as well as any accompanying clinical features [5]. A thorough medical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of alternative differential diagnoses are also crucial for accurate diagnosis [9].

References

• Bourassa Cynthia V, et al. VAMP1 [35]
• de Bot ST. The differential diagnosis of progressive spastic paraplegia strongly depends on the age at onset, as well as the accompanying clinical features [5]
• Datta A. Diagnosis is by clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of the alternative differential diagnoses [9]