Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

Abstract

Inborn errors of metabolism (IEMs) may present in adolescence or adulthood with various movement disorders including parkinsonism, dystonia, chorea, tics or myoclonus. Main diseases causing movement disorders are metal-storage diseases, neurotransmitter synthesis defects, energy metabolism disorders and lysosomal storage diseases. IEMs should not be missed as many are treatable. Here we briefly review IEMs causing movement disorders in adolescence and adults and propose a simple diagnostic approach to guide metabolic investigations based on the clinical course of symptoms, the type of abnormal movements, and brain MRI abnormalities.

The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism

“…However, no evidence of neurodegeneration has been detected in functional neuroimaging or neuropathological studies (Sedel et al 2008;Segawa et al 2003). Thus, we believe that the progressive manifestations in these disorders are due to the developmental changes in the central nervous system in the setting of abnormal neurotransmitter concentrations, and thus these disorders should be considered developmental encephalopathies.…”

“…In the dominantly inherited form of GTPCH deficiency, cognition is intact. Patients with intermediate phenotypes may have borderline or normal cognition (Giovanniello et al 2007;Hoffmann et al 2003;Horvath et al 2008;Sedel et al 2008;Swoboda et al 1999). It is thought that the early effects of monoamine deficiency in the developing brain may account for the cognitive deficits.…”

“…Some patients with a severe phenotype may show poor response to therapy (Hoffmann et al 2003;Pons et al 2004). It has been postulated that delaying treatment worsens the prognosis (Blau et al 2001a;Pons et al 2004;Sedel et al 2008). However, some patients who were started early in life also showed a poor therapeutic response.…”

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

“…Extensive metabolic and molecular analyses in all sibs ruled out lysosomal storage diseases, metachromatic leukodystrophy, infantile adrenoleukodystrophy, mitochondrial encephalomyopathies, aminoacidopathies and most autosomal recessive dystonia-parkinsonism syndromes. Differential diagnosis are summarized in Table 1 [7][8][9][10][11][12][13][14][15][16][17].…”

Lingual Dyskinesia and Tics: A Novel Presentation of Copper-Metabolism Disorder

“…1,[4][5][6] In recent years, some reports were published of neurologic disorders associated with abnormal copper metabolism that did not fit the criteria for any known disease, which were generally referred to as non-Wilson, non-Menkes coppermetabolism disorders; many of the patients in these cases presented with movement disorders (dystonia, myoclonus, tremor, or parkinsonism), gait disturbances, dysarthria, cognitive degeneration, sensory deficits, and abnormal brain and spinal MRI results. [7][8][9][10][11][12][13][14][15][16][17] We present here the case of an adolescent with a novel presentation of non-Wilson, non-Menkes-type copper-metabolism disorder that differs greatly from all other cases described to date.…”