Brachial multisegmental amyotrophy caused by cervical anterior horn cell disorder associated with a spinal CSF leak: a report of five cases

Journal of Neurology - Common symptoms in patients with a spinal CSF leak include orthostatic headaches, neck stiffness, and hearing difficulties. The main outcome of this report was to introduce...     

Curious case of steroid responsive diffuse anterior horn cell disease associated with COVID-19 infection

Neurological Sciences - Covid-19-associated neurological manifestations are being reported with increased frequency throughout the world. In a study from China, symptoms referable to peripheral...     

Focal accumulation of phosphorylated neurofilaments within anterior horn cell in familial amyotrophic lateral sclerosis

Summary Distribution of phosphorylated neurofilament proteins within anterior horn cells in three cases of familial and six cases of sporadic amyotrophic lateral sclerosis (ALS) and ten control cases were investigated by using a monoclonal antibody. Two distinct staining patterns of perikarya were observed; (1) homogeneous pattern; either the entire or a part of the perikaryon was immunostained homogeneously (homogeneously diffuse or partial pattern); (2) focal pattern: perikarya contained very distinct, inclusion-like focal accumulation of immunoreactive products of various morphologies such as round, ring-shaped, cord-like, tube-like and more irregular shapes. The homogeneous pattern was found in all three groups but was most common in sporadic ALS. On the other hand, the focal pattern was seen almost exclusively in familial ALS. The focal accumulation of neurofilaments appears at least in part to be related to the Lewy body-like hyaline inclusion which is known to contain neurofilaments. In addition, cord-like swellings of neurites in familial ALS also showed focal neurofilament accumulation. These observations suggest that the focal accumulation of phosphorylated neurofilaments is characteristic of familial ALS, although it may not be specific to the entity. The pathological process(es) producing the neurofilamentous abnormality may play an important role in anterior horn cell degeneration in familial ALS.     

Anterior horn cell disease associated with pontocerebellar hypoplasia in infants.

Three sibs presented with an identical clinical picture of severe mental retardation, cortical blindness, and extensive peripheral paralysis of lower motor neurone type, and died before one year of age. In the one necropsied case, spinal cord lesions, indistinguishable form those of Werding-Hoffman disease, were associated with extreme hypoplasia and atrophy of the cerebellum, and with atrophy of the ventral part of the pons. No prominent abnormalities were found in the nerves sampled despite gross reduction of motor and sensory conduction velocities in two infants. It is proposed that this familial disorder is distinct from Werdnig-Hoffmann disease, and represents a further subtype in the heterogeneous group of the infantile muscular atrophies.     

A new form of sea-blue histiocytosis associated with progressive anterior horn cell and axonal degeneration

A 15-year-old girl evidenced a slowly progressive central nervous system degenerative disorder. The illness had begun and progressed between ages 1 and 12 years, with ataxia, spasticity, choreoathetosis, early-onset seizures (which later ceased), and mild retardation. At age 13 she had developed rapidly progressive generalized weakness and atrophy, indicating peripheral nervous system involvement. Laboratory investigation revealed the presence of sea-blue histiocytes in the bone marrow without evidence of a disorder of sphingolipid metabolism or neuronal ceroid lipofuscinosis. Muscle biopsy showed large- and small-group atrophy, and sural nerve biopsy demonstrated axonal degeneration. This patient's illness appears to be a hitherto undescribed form of "sea-blue histiocytosis" associated with neurological dysfunction in children.     

Incontinentia pigmenti: association with anterior horn cell degeneration

Incontinentia pigmenti (IP) has been associated with CNS involvement, including seizures, retardation, motor abnormalities, and malformations in greater than 30% of patients. Motor symptoms include spasticity and hyperreflexia; however, weakness and flaccidity have also been described. Peripheral nervous system neuropathology in patients with IP has not previously been reported. The infant with IP in this report showed generalized weakness due to anterior horn cell degeneration. The neuropathologic findings in both the central and peripheral nervous systems will be reviewed and contrasted to previous reports. Patients with IP and weakness should undergo neurodiagnostic evaluation of peripheral nervous system function.     

Natural killer cell lymphoproliferative disease associated with combined peripheral and autonomic neuropathy.

Natural killer cell proliferation is an uncommon haematological disorder that has a number of different clinical manifestations. There have been only two prior reports linking this process with neurological disease, both reports describing peripheral neuropathy. We report the case of a young man presenting with a short history of lethargy, lower limb paraesthesia and marked weight loss who was found to have a natural killer cell lymphocytosis and features of both an autonomic and a peripheral neuropathy. The patient's clinical features responsed to a combination of cytotoxic and immunosuppressive therapy, and the patient is now clinically stable with mild ongoing lymphocytosis, diarrhoea and postural hypotension. We review the possible pathological link between natural killer cells and neurological disease.     

Membranous cytoplasmic bodies in the anterior horn neurons in two patients with amyotrophic lateral sclerosis

We observed abundant membranous cytoplasmic bodies in several remaining anterior horn neurons in two patients with sporadic amyotrophic lateral sclerosis (ALS). These bodies were rare in the neurons of the frontal cortex and of the rectum examined in one case. The link between membranous cytoplasmic bodies and ALS is vague; however, pathogenesis of ALS is unknown and there are few reports on the lysosomal system in ALS. Therefore, further study is needed in order to evaluate abnormalities in the lysosomal system to clarify the degenerative processes in ALS.     

Chronic inflammatory demyelinating polyneuropathy-like disorder associated with amyotrophic lateral sclerosis

The association between demyelinating neuropathy and amyotrophic lateral sclerosis (ALS) has been reported rarely. We report four patients who presented with clinical features and investigations suggestive of a neuropathy but who later progressed and received a final diagnosis of ALS according to the original El Escorial criteria. Three patients met the European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) 2006 definition for "definite" chronic inflammatory demyelinating polyneuropathy (CIDP), as well as the American Academy of Neurology (AAN) 1991 and Nicolas et al. [2002] electrodiagnostic criteria for CIDP. Two of them showed segmental demyelination on teased-fiber preparations and one had a raised cerebrospinal fluid protein level. Another patient met the Nicolas et al. CIDP criteria and presented with brachial plexus hyperintensity on T2-weighted magnetic resonance imaging, indicative of an inflammatory process. No significant objective response to immunomodulatory treatment was observed in any of these patients who all subsequently progressed unfavorably.     

Atrophic cell processes of large motor neurons in the anterior horn in amyotrophic lateral sclerosis: observation with silver impregnation method

Investigation of silver-stained lumbar anterior horns in four autopsied cases of sporadic amyotrophic lateral sclerosis (ALS) revealed frequent extremely small cell processes originating from large motor neurons. Their perikarya were usually smaller in size than those of normal-looking ones and almost invariably had central chromatolysis-like changes, suggesting an intimate pathomorphological relationship between the perikarya and their processes. Although it was difficult to determine whether these small processes were atrophic dendrites or shrunken axons, some were recognized as dendrites from their multiple branchings and some were identified as axons from their tapering configuration followed by widening of the distal portion. Aggregates of lipofuscin were almost always present in the perikaryal portion from which an atrophic process arose. In addition, the somewhat argentophilic slender cytoplasm which in normal neurons separates lipofuscin from the cell surface and merges with the proximal part of a process, was prominently attenuated. The small processes were more frequently observed in cases with many spheroids and chromatolytic neurons. The change in the proximal portion of the processes may implicate some disturbance of functional connection between the soma and the cell processes in ALS.     

Ubiquitin-immunoreactive filamentous inclusions in anterior horn cells of Guamanian and non-Guamanian amyotrophic lateral sclerosis

Summary Immunohistochemical studies with an antibody to ubiquitin revealed the presence of filamentous inclusions in spinal anterior horn cells in all of six patients with Guamanian amyotrophic lateral sclerosis (ALS) and one of six cases of parkinsonism-dementia complex (PD) on Guam. Similar ubiquitin-reactive filamentous inclusions were found in all of seven non-Guamanian sporadic ALS patients examined. No similar inclusions were seen in six normal controls or in non-ALS patients who had chromatolytic neurons. The filamentous inclusions differed from spinal neurofibrillary tangles, a characteristic feature of Guamanian ALS and PD, since they were restricted to anterior horn cells and did not react with anti-tau antibody. The chromatolytic neurons of non-ALS patients occasionally had weak diffuse immunoreactivity, but no focal inclusions were detected. These results suggest that ubiquitin-reactive focal filamentous inclusions may reflect a characteristic degenerative process of anterior horn cells of motor neuron disease.