MOLECULAR STUDY FAMILIAL SPASTIC PARAPLEGLYA SPG1 (L1CAM GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4306

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	37 days
Information:
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. Clinically, HSPs can be divided into two main groups: pure and complex forms. Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, often associated with hypertonic urinary disturbances, mild reduction of lower extremity vibration sense and, occasionally, of joint position sensation. Complex HSP forms are characterized by the presence of additional neurological or non-neurological features. SPG 17 is a complex HSP form characterized by progressive weakness and wasting mainly in the hands and feet. All X-linked HSPs are complex forms. SPG1 (see L1 Syndrome) is characterized by hydrocephalus, intellectual disability, spasticity of the legs, and adducted thumbs. The phenotypic spectrum of L1 syndrome includes X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome (mental retardation, aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs), SPG1 (X-linked complicated hereditary spastic paraplegia type 1), and X-linked complicated corpus callosum agenesis.
Links:
OMIM Entry - # 303350 - MASA SYNDROME
OMIM Entry - - 308840 - L1 CELL ADHESION MOLECULE; L1CAM

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