THE INHERITED METABOLIC DISEASES OF THE NERVOUS SYSTEM
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cence, and it progresses slowly over a period of 10 or more years The early signs are highly variable but are predominantly motor, both corticospinal (spasticity, hyperre exia, Babinski signs) and extrapyramidal (rigidity, dystonia, and choreoathetosis) General deterioration of intellect is conjoined In individual cases, ataxia and myoclonus have appeared at some phase of the illness The spasticity and rigidity are most prominent in the legs, but in some instances they begin in the bulbar muscles, interfering with speech and swallowing, as happens in Wilson disease We have observed patients who, over a period of years, exhibited only dystonia of the tongue, blepharospasm, or arching of the back The relationship of this restricted form to the complete syndrome remains unsettled Eventually, the patient becomes almost completely inarticulate and unable to walk or use his or her arms Optic atrophy has been mentioned in a few reports, but we have not observed it Hay ick and colleagues have found that only one-third of patients with atypical forms of the disease have mutations of the PANK2 gene, and these are of a different type than in the classic disease Moreover, variant cases tended not to show the characteristic changes on MRI described below Reduced levels of PANK2 corroborate the diagnosis, but this test is available only in research laboratories with an interest in the disease The characteristic deposits of iron in the basal ganglia have not been associated with a demonstrable abnormality of serum iron or of iron metabolism It has, however, been reported that there is a high uptake of radioactive iron in the region of the basal ganglia following intravenous injection of labeled ferrous citrate (Vakili et al, Szanto and Gallyas) CT scanning reveals hypodense zones in the lenticular nuclei, resembling those of hepatolenticular degeneration, sul te oxidase de ciency, glutaric acidemia, and Leigh disease, although high-density lesions have been described in one autopsy-proven case of this disease (Tennison et al) The MRI ndings are striking (Fig 37-8) In T2-weighted images, the pallidum appears intensely black, with a small white area in its medial part ( eye of the tiger sign; see also Savoiardo et al) The neuropathology proves to be the most distinctive attribute of the disease There is an intense brown pigmentation of the globus pallidus, substantia nigra (especially the anteromedial parts), and
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red nucleus Granules and larger amorphous deposits of iron mixed with calcium stud the walls of small blood vessels or lie free in the tissue A loss of neurons and medullated bers occurs in the most affected regions Another unique feature is the presence of swollen axon fragments, which resemble those of neuroaxonal dystrophy; for this reason, some neuropathologists regard Hallervorden-Spatz disease as a juvenile form of neuroaxonal dystrophy Iron deposits are less conspicuous in the latter disease, leaving this interpretation in doubt The signi cance of iron deposition is dif cult to judge To some extent, there is an increase of iron in the basal ganglia in other degenerative diseases In Parkinson disease and striatonigral degeneration, for example, the deposition of iron is two to three times normal, presumably the result of degeneration of those tissues that are known to be rich in iron No treatment is known to be effective Some of our patients responded temporarily to L-dopa, but the effect was slight The use of chelating agents to reduce iron storage has not helped Differential Diagnosis of Wilson and Hallervorden-Spatz Diseases Disorders that must be differentiated from Wilson and Hallervorden-Spatz diseases are tardive dyskinesia, restricted forms of dystonia, adult and juvenile Parkinson disease and the related Segawa type of L-dopa responsive dystonia, early-onset rigid form of Huntington chorea, status dysmyelinatus, Fahr disease (see below), Lafora-body disease, Leigh subacute necrotizing encephalomyelopathy, multiple sclerosis, dentatorubropallidoluysian degeneration, ceroid lipofuscinosis, polyglucosan disease, and other rare, presumably biochemical disorders of unknown type Several probable cases evoking these different diagnoses have come to our attention; in each there were some components of the extrapyramidal picture of Wilson disease but without evidence of liver involvement or copper abnormality Dif cult to categorize are diseases such as the one reported by Willvonseder and colleagues and by Tagawa and coworkers in which a mild dementia, spastic dysarthria, paresis of vertical eye movements, gait disturbance, and splenomegaly came on during early adult life Here, abnormalities of copper metabolism were found (slightly decreased serum ceruloplasmin, copper turnover values in the range of those in heterozygous carriers of Wilson disease), but there was no increase in urinary copper excretion It is not known if they carry the Wilson gene The authors have seen two such patients One in her fties had the subacute onset of parkinsonism with severe dysarthria, wilsonian facies, mild ataxia, and exaggerated facial and limb re exes There were no Kayser-Fleischer rings There were symmetrical signal changes in the MRI in the pallidum and dentate nucleus and diffusely through the white matter She stabilized without treatment In families known to have Huntington chorea, children and some adults may be af icted with a predominantly rigid-parkinsonian form (Westhpal variant) About 5 percent of all cases of Huntington chorea are of this juvenile type Rather than a movement disorder, this condition is marked by a slow decay in intellect, slurred speech, rigidity of the limbs, short-stepped gait, and exion hypertonia of the limbs and trunk Nevertheless, choreoathetosis does eventually appear in most cases Ocular movements are full except for upward gaze The disease is inexorably progressive, and eventually the patient becomes mute and rigidly immobile, with mouth agape, limbs exed, and hands sted in xed, dystonic postures Progressive supranuclear palsy may for a considerable period of time lack the characteristic limitation of vertical gaze, or it may be minimal The main features are then axial rigidity, extension
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Figure 37-8 Hallervorden-Spatz disease T2-weighted MRI showing areas of decreased signal intensity of the pallidum bilaterally (corresponding to iron deposition) and a central high signal area due to necrosis ( eye of the tiger sign)
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