hereditary spastic paraplegia 86

Hereditary Spastic Paraplegia 86 (SPG86) is a complex neurologic disorder characterized by global developmental delay apparent from early childhood combined with early-onset progressive spasticity mainly affecting the lower limbs, but also affecting the upper limbs [1][2]. Affected individuals have hyperreflexia, extensor plantar responses, pyramidal signs, and difficulty walking or standing [11].

The disorder is caused by a homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33 [3][6]. This genetic mutation leads to a range of symptoms that impact the brain, spinal cord, and nerves (neurological symptoms) [10].

Some key features of SPG86 include:

• Global developmental delay apparent from early childhood
• Early-onset progressive spasticity mainly affecting the lower limbs, but also affecting the upper limbs
• Hyperreflexia
• Extensor plantar responses
• Pyramidal signs
• Difficulty walking or standing

It's worth noting that SPG86 is a rare disorder and more research is needed to fully understand its characteristics and symptoms.

Hereditary Spastic Paraplegia (HSP) is a group of rare genetic disorders that affect the nervous system, leading to progressive weakness and stiffness in the legs. The signs and symptoms of HSP can vary depending on the specific subtype, but here are some common features associated with HSP-86:

• Progressive spasticity and weakness: Affected individuals typically experience a gradual worsening of muscle tone and strength in their lower limbs, leading to difficulty walking or inability to walk [3][5].
• Hyperreflexia: Individuals with HSP-86 often exhibit hyperreflexia, which is an abnormally brisk reflex response [1][5].
• Extensor plantar responses: This condition is characterized by a positive Babinski sign, where the big toe extends when the sole of the foot is stimulated [3][5].
• Pyramidal signs: Affected individuals may exhibit pyramidal signs, such as weakness or paralysis of the lower limbs, and difficulty with coordination and balance [3][5].
• Difficulty walking or inability to walk: As the condition progresses, affected individuals often experience significant impairment in their ability to walk, with some losing the ability to walk by 60-70 years of age [4].

It's worth noting that HSP-86 can also be associated with other symptoms, such as joint stiffness and sensory abnormalities. However, these features may not be present in all cases.

References:

[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5

Hereditary Spastic Paraplegia (HSP) 86, also known as SPG86, is a rare neurodegenerative disorder characterized by global developmental delay and progressive spasticity affecting the lower limbs. Diagnostic tests for HSP 86 are crucial for accurate diagnosis and management of the condition.

Clinical Diagnosis

The clinical diagnosis of HSP 86 is based on medical and family history, neurological examination, and exclusion of other differential diagnoses [6]. A thorough evaluation by a neurologist or a geneticist is essential to confirm the diagnosis.

Imaging Studies

Brain imaging studies, such as MRI, are essential in patients with SPG86 to rule out other causes of paraplegia, such as compressive, inflammatory, or metabolic disorders [8].

Genetic Testing

Molecular genetic testing, including whole-exome sequencing and whole-genome sequencing, can help identify the disease-causing variant in HSP 86 [7]. This information can assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling.

Autosomal Recessive (AR) NGS Panel

The Autosomal Recessive (AR) Hereditary Spastic Paraplegia NGS Panel (34 genes), offered by The Hospital for Sick Children and University of Toronto, includes the gene responsible for HSP 86 [9]. This panel can help identify the disease-causing variant in patients with SPG86.

Method Description and Targeted Genes

For more information on genetic testing for HSP 86, refer to the Method Description and Targeted Genes and Methodology Details for Inherited Spastic Paraplegia Gene Panel [15].

In summary, diagnostic tests for hereditary spastic paraplegia 86 include clinical diagnosis, imaging studies (MRI), molecular genetic testing (whole-exome sequencing and whole-genome sequencing), and the Autosomal Recessive (AR) Hereditary Spastic Paraplegia NGS Panel. These tests can help confirm the diagnosis, provide prognostic information, and guide clinical management of HSP 86.