A 58-year-old man with optic atrophy, spastic paraparesis, axonal sensorimotor peripheral neuropathy and intestinal dysmotility harbors a novel heterozygous missense mutation in the mitochondrial import signal peptide of OPA1. The case underscores the role of OPA1 in the pathogenesis of spastic paraparesis, so far reported only in very few cases, and it adds intestinal dysmotility to the spectr...

Cirrhotic or hepatic myelopathy is a rare neurological complication of chronic liver disease usually seen in adults and presents as a progressive pure motor spastic paraparesis which is usually associated with overt liver failure and a surgical or spontaneous systemic portocaval shunt. We describe the development of progressive spastic paraparesis, in a patient with alcoholic cirrhosis with por...

Previous reports have shown the association between familial spastic paraplegia and hypopigmentation of the skin. A family is reported in which three siblings presented with progressive spastic paraparesis and cerebellar ataxia. All the siblings had large hyperpigmented naevi of the lower extremities while none of the unaffected members had a skin lesion. A definite association appears to exist...

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical. In the present ar...

We present a family in which an initial clinical diagnosis of autosomal dominant pure hereditary spastic paraparesis (HSP) was made on the basis of a three generation pedigree in which both males and females presented with a spastic paraparesis. Subsequent biochemical and genetic analysis revealed that the family was in fact affected by the adrenomyeloneuropathy subtype of X-linked adrenoleukod...

PURPOSE To characterize the MR findings in children with spastic tetraplegia by gestational age at birth and perinatal history. METHODS Thirty-four children, 19 boys and 15 girls, with spastic tetraplegia whose brain damage occurred in the prenatal or perinatal period were included in the study. Eighteen were born at term or later and 16 were premature. Axial proton density- and T2-weighted i...

Spastic drop foot is a functional impairment causing significant morbidity and mortality. Multiple treatments are available for this condition, but it is often not clear which treatment or combination of treatments is optimal for a given patient. One relatively recent therapy is the use of functional electrical stimulation to stimulate the peroneal nerve. Another is the use of botulinum toxin i...

Adrenomyeloneuropathy (AMN), one of the variants of X-linked adrenoleukodystrophy (ALD), is inherited peroxisomal disorder associated with the accumulation of very long chain fatty acids (VLCFA). AMN is characterized primarily by involvements of long ascending and descending tracts of the spinal cord and peripheral neuropathy, which leads to spastic paraparesis and urinary and erectile dysfunct...

Cerebral palsy is a term used for a group of nonprogressive, incurable brain disorders that affect motor control. There are four different types―spastic, dyskinetic/athetoid, ataxic, and mixed―with spastic being the most common. The main symptom of spastic cerebral palsy is stiff muscles. The subtypes are categorized by the number of limbs affected and the quality of movement. The affected limb...