Late‐onset Hallervorden‐Spatz disease presenting as familial parkinsonism

We studied a 68-year-old man who died after 13 years of progressive dementia, rigidity, bradykinesia, mild tremor, stooped posture, slow and shuffling gait, dystonia, blepharospasm, apraxia of eyelid opening, anarthria, aphonia, and incontinence. At autopsy, he had generalized brain atrophy with large deposits of iron pigment in the globus pallidus, caudate, and substantia nigra. Axonal spheroids were found in the globus pallidus, substantia nigra, medulla, and spinal cord. The neurochemical analysis of the brain revealed marked loss of dopamine in the nigral-striatal areas, with relative preservation of dopamine in the limbic areas. This is the oldest case of familial Hallervorden-Spatz disease reported and the first with neurochemical analysis of the brain.

[1]  D. Muller,et al.  VITAMIN E AND NEUROLOGICAL FUNCTION , 1983, The Lancet.

[2]  J. Hallervorden,et al.  Eigenartige erkrankung im extrapyramidalen system mit besonderer beteiligung des globus pallidus und der substantia nigra , 1922 .

[3]  R. Janzer,et al.  Computed tomography in Hallervorden-Spatz disease. , 1987, Neuropediatrics.

[4]  L. Forno,et al.  Joseph disease , 1982, Neurology.

[5]  O. H. Lowry,et al.  Protein measurement with the Folin phenol reagent. , 1951, The Journal of biological chemistry.

[6]  E. Bird,et al.  Decreased catecholamine content caused by slicing of frozen human post mortem brain with an electric blade , 1983, Neuroscience Letters.

[7]  F. Gallyas,et al.  A study of iron metabolism in neuropsychiatric patients. Hallervorden-Spatz disease. , 1966, Archives of neurology.

[8]  B. Halliwell,et al.  INCREASED NON-PROTEIN-BOUND IRON AND DECREASED PROTECTION AGAINST SUPEROXIDE-RADICAL DAMAGE IN CEREBROSPINAL FLUID FROM PATIENTS WITH NEURONAL CEROID LIPOFUSCINOSES , 1982, The Lancet.

[9]  H. Barden.  THE HISTOCHEMICAL RELATIONSHIP OF NEUROMELANIN AND LIPOFUSCIN , 1969, Journal of neuropathology and experimental neurology.

[10]  G. C. Cotzias,et al.  MELANOGENESIS AND EXTRAPYRAMIDAL DISEASES. , 1964, Federation proceedings.

[11]  S. Kalyanasundaram,et al.  An adult with hallervorden-spatz disease: Clinical and pathological study , 1980, Clinical Neurology and Neurosurgery.

[12]  K. Jellinger,et al.  ["Striato-nigral degeneration"]. , 1968, Acta neuropathologica.

[13]  S. Ludwin,et al.  Neuroaxonal dystrophy in young adults: A clinicopathological study of two unrelated cases , 1982, Annals of neurology.

[14]  M. Dumon-Radermecker,et al.  [EEG in infantile neuroaxonal dystrophy and Hallervorden-Spatz disease]. , 1972, Revue d'electroencephalographie et de neurophysiologie clinique.

[15]  A. Young,et al.  New form of familial Parkinson‐dementia syndrome , 1983, Neurology.

[16]  J. Gutteridge,et al.  Iron and oxygen radicals in tissue damage: implications for the neuronal ceroid lipofuscinoses , 1983, Acta neurologica Scandinavica.

[17]  L. Lockman,et al.  Sea‐blue histiocyte and posterior column dysfunction , 1975, Neurology.

[18]  B. Scheithauer,et al.  Neuroaxonal dystrophy (Seitelberger's disease) with late onset, protracted course and myoclonic epilepsy , 1978, Journal of the Neurological Sciences.

[19]  J. Parisi,et al.  Pallidonigral pigmentation and spheroid formation with multiple striatal lacunar infarcts , 1981, Neurology.

[20]  S. Gilman,et al.  Hallervorden-Spatz disease and infantile neuroaxonal dystrophy. Clinical characteristics and nosological considerations. , 1973, Journal of Neurological Sciences.

[21]  G. Serratrice,et al.  Chronic spinal muscular atrophy and pallidonigral degeneration , 1983, Neurology.

[22]  F. Andermann,et al.  Juvenile dystonic lipidosis , 1977, Neurology.

[23]  L. Hayman,et al.  Familial cavernous angiomas: natural history and genetic study over a 5-year period. , 1982, American journal of medical genetics.

[24]  G. Bots,et al.  Amyotrophic lateral sclerosis‐dementia complex, neuroaxonal dystrophy, and Hallervorden‐Spatz disease , 1973, Neurology.

[25]  B. Park,et al.  Pathogenesis of pigment and spheroid formation in Hallervorden‐Spatz syndrome and related disorders , 1975, Neurology.

[26]  A. Harding,et al.  Spinocerebellar degeneration secondary to chronic intestinal malabsorption: A vitamin E deficiency syndrome , 1982, Annals of neurology.

[27]  Stephen A. Smith,et al.  Sea‐blue histiocytes, lymphocytic cytosomes, movement disorder and 59Fe‐uptake in basal ganglia , 1983, Neurology.

[28]  E. Hedley‐Whyte,et al.  Idiopathic hemochromatosis (IHC) , 1983, Neurology.

[29]  W. Goldberg,et al.  Nonspecific accumulation of metals in the globus pallidus in Hallervorden-Spatz disease. , 1979, Transactions of the American Neurological Association.

[30]  J. Jankovic,et al.  Progressive supranuclear palsy: Clinical features and response to treatment in 16 patients , 1983, Annals of neurology.