Head drops are also observed in McLeod syndrome

Chauveau, Marie; Damon-Perrière, Nathalie; Latxague, Claire; Spampinato, Umberto; Jung, Hans H.; Burbaud, Pierre; Tison, François

doi:10.1002/mds.23605

Cited by 15 publications

(11 citation statements)

References 3 publications

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“…ChAc clinical features include extrapyramidal symptom, hematology changes and neuroimaging changes [8][9][10] : A. The onset age is 8-62, the average age is 32, more prevalent in male than female.…”

Section: Discussionmentioning

confidence: 99%

Chorea-acanthocytosis:Report of 1 case

2016

Genes Transl Bioinform

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To report one case of chorea-acanthocytosis (ChAc). The case study was done using indicators such as signs, clinical symptoms, biochemical markers, red blood cell morphology and gene sequencing observation. The patient's main signs and symptoms were mouth-tongue dystonia, tongue biting, abnormal gait, seizures, decreased gag reflex, decreased muscle tone, decreased tendon reflex. Blood lactate dehydrogenase (LDH, 459 U/L), creatine kinase (CK, 2806U/L), prolactin (PRL, 38.35ng/ml) were increased. There was a large number of acanthocyte in blood smear (50% of the red blood cell), and there were lots of acanthocytes in the blood smear of her parents (30% of father and 25% of mother). Electromyography showed peripheral nerve damage. Brain MRI scan showed caudate nucleus atrophy. Gene sequencing detected mutations in VPS13A. The following clinical features of the patient was used to diagnose the patient of ChAc: blood LDH, CK, PRL, blood smear, brain MRI imaging characteristics, gene sequencing result. There is limitation in the treatment of the disease. Hence there is the need for monitoring and exploration of effective methods of diagnosis and treatment.

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Section: Discussionmentioning

confidence: 99%

Chorea-acanthocytosis:Report of 1 case

2016

Genes Transl Bioinform

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“…Severe neck (“head drops”) and truncal flexion are also typical. Head-drops have been reported also in both McLeod syndrome [ 62 ] and Huntington’s disease (HD) [ 63 ]. The velocity of these movements suggests that they are choreic in nature, rather than being due to sudden losses in tone (negative myoclonus) or due to dystonia.…”

Section: Chorea-acanthocytosismentioning

confidence: 99%

“…Patients with chorea may eventually progress to parkinsonism [ 118 ]. Head-drops [ 62 ] and orolingual dystonia with feeding [ 122 ], otherwise suggestive of ChAc, are occasionally seen, although not the self-mutilating lip-biting. Peripheral sensorimotor neuropathy and areflexia are typical, and are often early or predominant features [ 123 ].…”

Section: Mcleod Syndromementioning

confidence: 99%

Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes

Walker

2015

JMD

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There have been significant advances in neuroacanthocytosis (NA) syndromes in the past 20 years, however, confusion still exists regarding the precise nature of these disorders and the correct nomenclature. This article seeks to clarify these issues and to summarise the recent literature in the field. The four key NA syndromes are described here–chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, and pantothenate kinase- associated neurodegeneration. In the first two, acanthocytosis is a frequent, although not invariable, finding; in the second two, it occurs in approximately 10% of patients. Degeneration affecting the basal ganglia is the key neuropathologic finding, thus the clinical presentations can be remarkably similar. The characteristic phenotype comprises a variety of movement disorders, including chorea, dystonia, and parkinsonism, and also psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. The age of onset, inheritance patterns, and ethnic background differ in each condition, providing diagnostic clues. Other investigations, including routine blood testing and neuroimaging can be informative. Genetic diagnosis, if available, provides a definitive diagnosis, and is important for genetic counseling, and hopefully molecular therapies in the future. In this article I provide a historical perspective on each NA syndrome. The first 3 disorders, chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, are discussed in detail, with a comprehensive review of the literature to date for each, while pantothenate kinase-associated neurodegeneration is presented in summary, as this disorder has recently been reviewed in this journal. Therapy for all of these diseases is, at present, purely symptomatic.

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“…The latter symptom can be a presenting sign or emerge as the disease evolves from hyper-to hypo-kinetic movements. 45 Head drops 46 and orolingual dystonia with feeding, otherwise suggestive of ChAc, are rare, 47 and self-mutilating lip biting has not been reported. Positive results have been reported with DBS of the GPi.…”

Section: Mcleod Syndromementioning

confidence: 99%

Management of Neuroacanthocytosis Syndromes

Walker

2015

Tremor and Other Hyperkinetic Movements

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Background: The two core neuroacanthocytosis (NA) syndromes, chorea-acanthocytosis (ChAc) and McLeod syndrome, are progressive neurodegenerative disorders that primarily affect the basal ganglia. The characteristic phenotype comprises a variety of movement disorders including chorea, dystonia, and parkinsonism, as well as psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. These disorders are symptomatically managed on a case-bycase basis, with very few practitioners seeing more than a single case in their careers. Methods: A literature search was performed on PubMed utilizing the terms neuroacanthocytosis, chorea-acanthocytosis, and McLeod syndrome, and articles were reviewed for mentions of therapies, successful or otherwise. Results: There have been no blinded, controlled trials and only one retrospective case series describing ChAc. The various therapies that have been used in patients with NA syndromes are summarized. Discussion: Management remains at present purely symptomatic, which is similar in principle to other more common basal ganglia neurodegenerative disorders such as Huntington's disease (HD) and Parkinson's disease (PD). However, there are some specific issues particular to NA syndromes that merit attention. An integrated multidisciplinary approach is the ideal management strategy for these complex and multifaceted neurodegenerative disorders.

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Head drops are also observed in McLeod syndrome

Cited by 15 publications

References 3 publications

Chorea-acanthocytosis:Report of 1 case

Chorea-acanthocytosis:Report of 1 case

Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes

Management of Neuroacanthocytosis Syndromes

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