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Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome.

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BACKGROUND SPOAN (spastic paraplegia, optic atrophy, and neuropathy) syndrome is an autosomal recessive neurodegenerative disorder identified in a large consanguineous Brazilian family. METHODS Twenty-seven patients with SPOAN syndrome (20 women), aged 4-58 years, underwent nerve conduction studies

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.

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We report an autosomal recessive neurodegenerative disorder in 25 white members from a large inbred Brazilian family, 22 of whom were evaluated clinically. This condition is characterized by (1) subnormal vision secondary to apparently nonprogressive congenital optic atrophy; (2) onset of

Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN).

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Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically defined by congenital optic atrophy, infancy-onset progressive spastic paraplegia and peripheral neuropathy. In this study, which included 61

Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration.

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Autosomal dominant hereditary spastic paraplegia (AD-HSP) is due to mutations in the "spastin" gene (SPAST gene) encoding the AAA protein. The main clinical features of "pure" HSP are progressive lower-limb spasticity with corticospinal tracts and dorsal column degeneration without peripheral

Sequential changes of ascending myelopathy after spinal cord injury on magnetic resonance imaging: a case report of neurologic deterioration from paraplegia to tetraplegia.

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BACKGROUND Marked neurologic deterioration within a few days of traumatic spinal cord injury, known as subacute posttraumatic ascending myelopathy, is rare. Although several hypotheses regarding the pathogenesis of this condition have been proposed, the details remain elusive. OBJECTIVE To report a

Homozygosity for an allele carrying intermediate CAG repeats in the dentatorubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia.

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We report a family with autosomal recessive spastic paraplegia. Patient 1 was a 37-year-old woman and patient 2 was her 35-year-old sister. They showed spastic paraplegia with mild truncal ataxia and dysarthria but no dementia, epilepsy, myoclonus, or other involuntary movements. They were the

Differences in Cortical Gray Matter Atrophy of Paraplegia and Tetraplegia after Complete Spinal Cord Injury.

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Anatomical studies of SCI using Magnetic Resonance Imaging (MRI) report diverging observations, from 'no changes' to 'tissue atrophy in motor and non-motor regions.' These discrepancies among studies can be attributed to heterogeneity in extent, level and post-injury duration observed within the SCI

Chronic paraplegia-induced muscle atrophy downregulates the mTOR/S6K1 signaling pathway.

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Ribosomal S6 kinase 1 (S6K1) is a downstream component of the mammalian target of rapamycin (mTOR) signaling pathway and plays a regulatory role in translation initiation, protein synthesis, and muscle hypertrophy. AMP-activated protein kinase (AMPK) is a cellular energy sensor, a negative regulator

Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family.

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We describe two siblings affected by a motor and sensory neuropathy starting in childhood. Already in infancy, a spastic gait disturbance had become obvious, leading later to multiple surgical interventions. In adolescence, progressive loss of vision developed. At the time of our examination, both

Thinning of the corpus callosum and cerebellar atrophy is correlated with phenotypic severity in a family with spastic paraplegia type 11.

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BACKGROUND Mutations in the spatacsin gene are associated with spastic paraplegia type 11 (SPG11), which is the most-common cause of autosomal recessive hereditary spastic paraplegia. Although SPG11 has diverse phenotypes, thinning of the corpus callosum is an important feature. METHODS Clinical,

Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

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Two female sibs of first cousin Iranian parents were found to have the syndrome of spastic paraplegia, optic atrophy with poor vision, microcephaly, and normal cognitive development. Karyotype analysis showed a normal female constitution in one and a male constitution (46,XY) in the other. The XY

A rare cause of neurological deterioration to complete paraplegia after surgery for thoracic myelopathy: a case report

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Introduction: Progressive deterioration of neurological status post-thoracic myelopathy surgery after a clinically stable period is rare and can pose a diagnostic dilemma. We present our experience with such a case where all known etiologies were ruled out and the

A rare cause of neurological deterioration to complete paraplegia after surgery for thoracic myelopathy: a case report.

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Progressive deterioration of neurological status post-thoracic myelopathy surgery after a clinically stable period is rare and can pose a diagnostic dilemma. We present our experience with such a case where all known etiologies were ruled out and the cause of deterioration could not be

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

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BACKGROUND Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative diseases involving pyramidal tracts dysfunction. The genes responsible for many types of AR-HSPs remain unknown. We attempted to identify the gene responsible for AR-HSP with

Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.

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SPOAN is an autosomal recessive neurodegenerative disorder which was recently characterized by our group in a large inbred Brazilian family with 25 affected individuals. This condition is clinically defined by: 1. congenital optic atrophy; 2. progressive spastic paraplegia with onset in infancy; and

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