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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | SPART, SPARTIN, TAHCCP1, SPG20, spastic paraplegia 20 (Troyer syndrome) | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 607111; MGI: 2139806; HomoloGene: 32243; GeneCards: SPART; OMA: SPART - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Spartin is a protein that in humans is encoded by the SPG20 gene. [5] [6] [7]
This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dynamics, or both functions. Spartin loss has been associated to mitochondrial dysfunction, impaired complex I activity and altered pyruvate metabolism. [8] Frameshift mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [7] Troyer syndrome (SPG20) is a complicated type of hereditary spastic paraplegias (HSPs). [9] HSP is a category of neurological disorder characterized by spasticity and muscle weakness in the lower limbs. [9]
The original description of this gene mutation and associated symptoms were described in 1967. [10] This mutation is commonly found in high frequency with the Amish population. [6] Newer studies have found that the mutation is not isolated to the Amish population, but also resides in the Omani population. [10]
This syndrome is not only characterized by spasticity and weakness in the lower limbs, but also with dysarthria, mental retardation or mild developmental delay, and muscle wasting or muscle atrophy. [9]
Individuals appear to have difficulty walking, and report a clumsy, spastic gait which worsens over time. [10] Some additional common physical features include overgrowth of the jaw bone, hammer toes, hand and feet abnormalities, and pes cavus. [10]
Cognitive challenges, including developmental delay and difficulty with performance in school, may affect individuals with this syndrome. [10]
Neurologic examination of individuals with this mutation may show dysmetria in the upper extremities, hyperreflexia, distal amyotrophy and ankle clonus, in addition to spasticity, weakness and dysarthria. [10]
The cerebellar vermis may present with mild atrophy and a loss of white matter volume. [10]
Facial dysmorphism and subtle skeletal features are common in younger children. [10] The condition progressively worsens, as spasticity and distal amyotrophy symptoms are revealed more in teenage years. [10] SPG20 expression in the adult is relatively modest, however it is widespread in the nervous system. [10] Longitudinal comparison of magnetic resonance imaging concluded that there was a progression of the syndrome; thus, the condition appears to worsen over time. [10]
SPART | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | SPART, SPARTIN, TAHCCP1, SPG20, spastic paraplegia 20 (Troyer syndrome) | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 607111; MGI: 2139806; HomoloGene: 32243; GeneCards: SPART; OMA: SPART - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Spartin is a protein that in humans is encoded by the SPG20 gene. [5] [6] [7]
This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dynamics, or both functions. Spartin loss has been associated to mitochondrial dysfunction, impaired complex I activity and altered pyruvate metabolism. [8] Frameshift mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [7] Troyer syndrome (SPG20) is a complicated type of hereditary spastic paraplegias (HSPs). [9] HSP is a category of neurological disorder characterized by spasticity and muscle weakness in the lower limbs. [9]
The original description of this gene mutation and associated symptoms were described in 1967. [10] This mutation is commonly found in high frequency with the Amish population. [6] Newer studies have found that the mutation is not isolated to the Amish population, but also resides in the Omani population. [10]
This syndrome is not only characterized by spasticity and weakness in the lower limbs, but also with dysarthria, mental retardation or mild developmental delay, and muscle wasting or muscle atrophy. [9]
Individuals appear to have difficulty walking, and report a clumsy, spastic gait which worsens over time. [10] Some additional common physical features include overgrowth of the jaw bone, hammer toes, hand and feet abnormalities, and pes cavus. [10]
Cognitive challenges, including developmental delay and difficulty with performance in school, may affect individuals with this syndrome. [10]
Neurologic examination of individuals with this mutation may show dysmetria in the upper extremities, hyperreflexia, distal amyotrophy and ankle clonus, in addition to spasticity, weakness and dysarthria. [10]
The cerebellar vermis may present with mild atrophy and a loss of white matter volume. [10]
Facial dysmorphism and subtle skeletal features are common in younger children. [10] The condition progressively worsens, as spasticity and distal amyotrophy symptoms are revealed more in teenage years. [10] SPG20 expression in the adult is relatively modest, however it is widespread in the nervous system. [10] Longitudinal comparison of magnetic resonance imaging concluded that there was a progression of the syndrome; thus, the condition appears to worsen over time. [10]