Benign spastic paraplegia

Pelizaeus-Merzbacher disease (PMD) can now be defined as an X-linked recessive leukodystrophy that is caused by a mutation in the proteolipid protein (PLP) gene on chromosome Xq22. The most common mutation is gene duplication followed in frequency by missense mutations, insertions, and deletions. The clinical spectrum ranges from severe neonatal cases to relatively benign adult forms and X-linked recessive spastic paraplegia type 2. The lack of PLP is accompanied by deficits in the other myelin proteins of the central nervous system, including myelin basic protein, myelin-associated glycoprotein, and cyclic nucleotide phosphodiesterase...

Disorders of the motor neurons may affect both the upper and lower neurons, primarily the lower motor neurons as in the spinal muscular atrophies are primarily the upper motor neurons as in the familial spastic paraplegias. Amyotrophic lateral sclerosis is a degenerative disorder of the motor neuron that results in paralysis and wasting of voluntary muscles. Large motor neurons in the cerebral cortex, brain stem and spinal cord degenerate or are lost. Hyaline inclusions may be seen in the cytoplasm of surviving motor neurons...

We have developed an integrated map for a 35-cM area of human chromosome 8 surrounding the Langer-Giedion syndrome deletion region. This map spans from approximately 8q22 to 8q24 and includes 10 hybrid cell intervals, 89 polymorphic STSs, 118 ESTs, and 37 known genes or inferred gene homologies. The map locations of 25 genes including osteoprotegerin, syndecan-2, and autotaxin have been refined from the general locations previously reported. In addition, the map has been used to indicate the location of nine deletions in patients with Langer-Giedion syndrome and trichorhinophalangeal syndrome type I to demonstrate the potential usefulness of the map in the analysis of these complex syndromes...

BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described. While autosomal dominant HSP has been extensively studied, autosomal recessive HSP is less well known and is considered a rare condition. OBJECTIVE: To analyze the clinical presentation in a large group of patients with autosomal recessive HSP from Portugal and Algeria to define homogeneous groups that could serve as a guide for future molecular studies...

Amyotrophic lateral sclerosis (ALS), although a disease that has been well recognized for nearly 150 years, still causes problems of diagnosis and management, as there is no definitive diagnostic test, and the disease is pleomorphic. Research criteria were developed for the categorization of definite, probable, and possible ALS at the El Escorial Workshop (published in 1994). The principal features are upper and lower motor neuron signs at several levels of the neuraxis, without involvement of other neurological systems...

We present 2 sibs with autosomal recessive spastic paraparesis and severe amyotrophy of the distal limb muscles. Elaborate neurophysiologic studies disclosed slight to moderate slowing of motor conduction, moderate to severe reduction of motor action potentials, denervation potentials, and increased distal motor latencies. This syndrome, not having been reported since the papers by Ormerod (5) in 1904 and Holmes (6) in 1905, constitutes another rare, benign, complicated form of hereditary spastic paraparesis...

INTRODUCTION: The nervous system is affected in 30% of hereditary monogenic disorders and as many as 500 single-gene disorders display major neurologic symptoms. We have studied the frequency of hereditary neurological diseases to assess their importance in daily hospital activity. Only single-gene hereditary diseases with central or peripheral nervous system involvement were considered; thus chromosomal diseases and diseases with multifactorial etiology were excluded. METHODS: We surveyed admission to in- and out-patient departments of Neurology, Pediatrics, and Dermatology of the Aosta Regional Hospital for the calendar years 1982-1991, collecting 229 cases, 95 women and 134 men...

Clinical, neurophysiological and neuropathological investigations were performed on five patients from two families with autosomal dominant distal amyotrophy followed by spastic paraplegia and with a positive history in two generations of these two families. All cases in the two families had a benign clinical course, although two mothers could not walk without support at around 60 years old. Neurophysiological studies revealed normal maximum conduction velocities of peripheral sensory and motor nerves, and the central spinal sensory pathway...

Osteoblastoma is an infrequent but important cause of pain in the back and neurological findings in children and young adults. Its diagnosis may be difficult and often delayed (in one series, 23% of patients had not been diagnosed after 2 years of symptoms). MRI may be useful to noninvasively image the lesion, its soft tissue and bony extent and its relationship, if any, to the spinal cord.

A series of 72 primary spinal tumors including 57 malignant and 15 benign ones were treated surgically from the years 1961 to 1987. Neurologic complications developed in 52 patients, with paraplegia in 20, spastic paraparesis in 19, cauda damage in 11, and brachial plexus injury in two cases. The principles of the treatment were excision of the tumor, decompression of nervous elements, and stabilization of the spine. Surgical treatment was supplemented with radiotherapy or chemotherapy, or both. In the group of benign tumors, no deaths occurred and the clinical results were good...

The authors reported 17 cases of common form of juvenile amyotrophic lateral sclerosis (ALS), 14 cases with spastic paraplegia and peroneal atrophy, and 12 other cases belonging to one single family with spastic pseudo-bulbar paraplegia. The absence of sensory disturbances, the normal motor and sensory conduction velocities, the normal feature of sensory nerve biopsy allowed to include these 3 groups of patients in the frame of Juvenile ALS which is chronic and benign disease. The authors discussed these observations on the light of the literature data on familial spastic paraplegia and primary lateral sclerosis...