Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as spastic diplegia. The origin of HSP is different from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP symptoms.
Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency, is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia.
Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder.
Salla disease (SD) is an autosomal recessive lysosomal storage disease characterized by early physical impairment and intellectual disability. It was first described in 1979, after Salla, a municipality in Finnish Lapland and is one of 40 Finnish heritage diseases.
Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.
The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.
Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.
Paraplegin is a protein that in humans is encoded by the SPG7 gene located on chromosome 16.
Spartin is a protein that in humans is encoded by the SPG20 gene.
Warburg Micro syndrome (WARBM), also known as Spastic Paraplegia 69 (SPG69) or RAB18 Deficiency, is a rare autosomal recessive genetic disorder characterized by congenital cataract, hypotonia, spastic diplegia, intellectual or developmental disability, microcephaly, microcornea, optic atrophy, and hypogenitalism.
X-linked spinal muscular atrophy type 2, also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting (atrophy). The disease is caused by a mutation in UBA1 gene and is passed in an X-linked recessive manner by carrier mothers to affected sons.
Zinc finger, FYVE domain containing 26 is a protein that in humans is encoded by the ZFYVE26 gene.
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is disease of the arteries in the brain, which causes tissue loss in the subcortical region of the brain and the destruction of myelin in the CNS. CARASIL is characterized by symptoms such as gait disturbances, hair loss, low back pain, dementia, and stroke. CARASIL is a rare disease, having only been diagnosed in about 50 patients, of which ten have been genetically confirmed. Most cases have been reported in Japan, but Chinese and caucasian individuals have also been diagnosed with the disease. CARASIL is inherited in an autosomal recessive pattern. There is currently no cure for CARASIL. Other names for CARASIL include familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension, Nemoto disease and Maeda syndrome.
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a very rare genetic disorder which is characterized by myoclonic epilepsy and ataxia.
GRIN2B-related neurodevelopmental disorder is a rare neurodevelopmental disorder which is characterized by developmental delays and intellectual disabilities of variable degrees, muscle tone anomalies, feeding difficulties, and behavioral problems.
AP-5 complex subunit beta (AP5B1) is a protein that in humans is encoded by the AP5B1 gene.
AP-5 complex subunit sigma (AP5S1) is a protein that in humans is encoded by the AP5S1 gene.
Hypomyelination-congenital cataract syndrome is a rare autosomal recessive hereditary disorder that affects the brain's white matter and is characterized by congenital cataract, psychomotor development delays, and moderate intellectual disabilities. It is a type of leukoencephalopathy.
Spastic paraplegia 31 is a rare type of hereditary spastic paraplegia which is characterized by sensation anomalies of the lower extremities.
Progressive pseudorheumatoid disyplasia, also known as progressive pseudorheumatoid arthropathy of childhood (PPAD), is a disorder of bone and cartilage that affects many joints. The disorder leads to stiff joints, short stature and widening of the ends of the finger and toe bones as well as other tubular bones.
