FAMILIAL SPINAL CORD SYNDROMES (SPG) 1. Aggrecan heterozygosity: Mouse model. Early: Dwarfism, mild. Age- related: Lordosis; Spastic paraparesis. Herniation & degeneration of vertebral disks. Degeneration of disc chondrocytes. Spastic Ataxia Syndromes. Hereditary: Dominant. ![]() Spastic ataxia: Dominant. Spastic Ataxia: Recessive. Abetalipoproteinemia: MTP; 4q. We measured HDL cholesterol level, HDL particle concentration, and cholesterol efflux capacity at baseline in 2924 adults free from cardiovascular disease. ![]()
Ataxia ? Anticipation. Clinical: Variable phenotype. Spastic paraplegia (1. ![]() Leg spasticity. Bladder dysfunction. Dorsal column sensory loss: Reduced vibration & proprioception. ![]() ![]() ![]() ![]() Tendon reflexes: Brisk in legs. Plantar responses: Extensor. Course: Progressive; Disabling. Ataxia (6. 5%). Limb. Dysarthria. EOM: Saccadic intrusions; Hypermetric saccades. Dystonia (6. 0%): Mild; Hands & Feet. Mental retardation (3. Mild; Non- progressive. Laboratory. MRI: Spinal cord ? Recessive. Epidemiology: Most Caucasian; > 1. Onset age: 8 months to 7 years. Extrapyramidal. Dystonia. Rigidity. Choreoathetosis. Cerebellum: Ataxia; Nystagmus. Spasticity. Mental development. Poor speech. Mental deficiency: Mild to Severe. Other: Some patients. Short stature. Microcephaly. Hearing loss. Progressive. Vitamin D Metabolism. The three main steps in vitamin D metabolism, 25-hydroxylation, 1 Features suggesting diagnosis other than SPG Motor Weakness > Spasticity Prominent upper limb spasticity Asymmetry Peripheral neuropathy. Loss of unsupported walking: 2 to 1. Brain MRI. Hypomyelination: Diffuse; Progressive. Putamen: Small or Absent. ![]() Head of the caudate: Reduced size. Cerebellar atrophy: Especially granular layer. Hypomyelinating Leukodystrophy 9 (HLD9). Neurology 1. 99. 6; 4. Handbook of Clinical Neurology,2. Am J Med Genet 1. Am J Human Genetics 1. Neurology 1. 99. 9: 5. Nature Genetics 2. Online February. Neurogenetics 2. Brain 2. 01. 0 Online January. Human Genetics 1. Am J Human Genetics 1. J Neurol Neurosurg Psychiatry 2. Feb 1. Hum Mutat 2. Oct 1. 37. Am J Human Genetics 2. Am J Hum Genet 2. Jun 1. 88. Am J Human Genetics 2. J Clin Invest 2. 01. Online Jan. 9. Hum Mol Genetics 2. Am J Human Genetics 2. Eur J Hum Genet 2. Am J Human Genetics 2. J Neurol Neurosurg Psychiatry 2. 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