Symptoma

Hallervorden-Spatz Syndrome

The symptoms and signs of the syndrome are described, and these can present from infancy to adult life. Dystonia, involuntary movements and spasticity are prominent causes of disability. If the onset is delayed the presentation can be unusual. [ncbi.nlm.nih.gov]

  • Coarse Facial Features

    Affected children have coarse facial features and visceromegaly consistent with a lysosomal storage disease. [ncbi.nlm.nih.gov]

  • Feeding Difficulties

    Mental deterioration, emaciation, severe feeding difficulties, and visual impairment occur commonly in the late stages of the disease. The disease has its onset in the first or second decade of life. [medicinenet.com]

  • Onset at Age <20

    Differential diagnoses include the following: Early-onset Parkinson disease including parkin type of juvenile Parkinson disease and PLA2G6 -associated dystonia-parkinsonism may initially present similarly to atypical PKAN, with onset between age 20 and [ncbi.nlm.nih.gov]

  • Dysarthria

    The Hallervorden-Spatz syndrome (HSS) is a rare condition characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, retinal degeneration, dementia and a progressive course. [ncbi.nlm.nih.gov]

  • Ataxia

    We studied a 27-year-old woman who died after a 6-year history of progressive dementia, dystonia, ataxia, apraxia, spasticity, choreoathetosis, visual and auditory hallucinations, and optic atrophy. [ncbi.nlm.nih.gov]

    […] and accessible format, the book is designed to allow easy identification of relevant information, with the overall organization of topics following established phenotypic classifications of movement disorders such as Parkinsonian syndromes, chorea, ataxia [books.google.com]

  • Hyperreflexia

    Each patient had spastic gait, dysarthria, dystonic posturing of both arms and generalized hyperreflexia, but no Kayser-Fleischer rings or retinitis pigmentosa. Blood chemistry, urine copper, serum copper and serum ceruloplasmin were all normal. [ncbi.nlm.nih.gov]

    Described features include 9,11 : progressive dementia extrapyramidal signs (rigidity, dystonia, choreoathetosis) corticospinal signs (spasticity, hyperreflexia) dysarthria retinitis pigmentosa tremors The clinical course is usually relentlessly progressive [radiopaedia.org]

    Pyramidal signs including spasticity and hyperreflexia. Retinitis pigmentosa Atypical PKAN : Usually presents around 12-14 years of age. Slower progression. Speech and behavioural problems predominate in the early stages. [genetics4medics.com]

  • Pyramidal Tract Signs

    Table-1: Diagnostic features of Hallervorden spatz disease [11] Obligate Features Collaborate Features Exclusion Features Onset during first two decades Pyramidal tract signs Non progressive nature of the disease Progressive nature of the disease Progressive [medresearch.in]

    tract signs. 1 Choreoathetotic movements or tremor may also be present but these features have not been described in isolation. [jnnp.bmj.com]

    tract signs (rare) Cranial nerve involvement (rare) These disorders include the following: Hypobetalipoproteinemia type 1 (FHBL1; OMIM 615558 ) Hypobetalipoproteinemia type 2 (FHBL2; OMIM 605019 ) FHBL1, FHBL2, and ABL share the findings of acanthocytosis [ncbi.nlm.nih.gov]

  • Cranial Nerve Involvement

    nerve involvement (rare) These disorders include the following: Hypobetalipoproteinemia type 1 (FHBL1; OMIM 615558 ) Hypobetalipoproteinemia type 2 (FHBL2; OMIM 605019 ) FHBL1, FHBL2, and ABL share the findings of acanthocytosis, dysarthria, neuropathy [ncbi.nlm.nih.gov]

(See Presentation and Workup.) [4, 5, 6] PKAN is relentlessly progressive. The clinical course is characterized by progressive dementia, spasticity, rigidity, dystonia, and choreoathetosis. [emedicine.com]

  • Dyslipidemia

    Pantethine has been already proved to be an effective treatment for hyperlipoproteinemia and dyslipidemia in human patients, and a dose of up to 1,200 mg pantethine per day for 24 weeks is tolerated without any side effects ( 20, 21 ). [doi.org]

Western blot analysis with specific hPANK2 antibodies was used to investigate the effect of the RNAi treatment (48 h after RNAi treatment) on hPANK2 protein levels. GAPDH was used as a loading control. [doi.org]

A 12 year old patient with the Hallervorden-Spatz syndrome and suffering from acute intestinal obstruction during treatment with benztropine is presented. [ncbi.nlm.nih.gov]

Prognosis: Fatal; Mean duration disease after symptom onset 11 yrs Treatment: No curative treatment. Iron chelation ineffective. Palliative treatment with Baclofen, trihexyphenidyl, stereotactic pallidotomy, Pantothenate (vit B5). [neuroradiologycases.com]

[…] choreoathetosis, torsion spasm–dystonia, parkinsonism, cerebellar ataxia, speech impairment, mental deterioration, generalized rigidity Imaging Cerebral atrophy by CT DiffDx Dementia with extrapyramidal motor defects, Wilson's disease Management None Prognosis [medical-dictionary.thefreedictionary.com]

Prognosis: Fatal; Mean duration disease after symptom onset 11 yrs Treatment: No curative treatment. Iron chelation ineffective. Palliative treatment with Baclofen, trihexyphenidyl, stereotactic pallidotomy, Pantothenate (vit B5). [neuroradiologycases.com]

(See Presentation and Prognosis.) [7, 8] The disease can be familial or sporadic. [emedicine.com]

These findings suggest that obtaining a buffy coat and bone marrow biopsy may aid in the diagnosis of Hallervorden-Spatz syndrome and ultimately provide information regarding etiology. [ncbi.nlm.nih.gov]

Etiology The exact etiology of PKAN is not known. One proposed hypothesis is that abnormal peroxidation of lipofuscin to neuromelanin and deficient cysteine dioxygenase lead to abnormal iron accumulation in the brain. [emedicine.com]

Pantothenate kinase-associated neurodegeneration EPIDEMIOLOGY PKAN was first described by Drs. Julius Hallervorden and Hugo Spatz in 1922. [flipper.diff.org]

Relevant External Links for PANK2 Genetic Association Database (GAD) PANK2 Human Genome Epidemiology (HuGE) Navigator PANK2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PANK2 No data available for Genatlas for PANK2 Gene A novel pantothenate [genecards.org]

The clarification of the role of oxidative distress in the pathophysiology of the syndrome will fill a large void in the understanding of the condition. [ncbi.nlm.nih.gov]

His main research interest is in movement disorders, specifically the merging of clinical, electrophysiological and imaging methods to provide insights into the pathophysiology of conditions like dystonia and Parkinson's disease. [books.google.com]

We here demonstrate that pantethine administration can prevent the onset of the neuromuscular phenotype in mice suggesting the possibility of experimental treatment in patients with pantothenate kinase-associated neurodegeneration. [ncbi.nlm.nih.gov]

Brain tissue from patients who have died only hours before is needed, and it must be handled properly to prevent iron from being unintentionally removed from the tissue. Other tissue also is needed, but brain tissue is needed most urgently. [nbiadisorders.org]

Mutations in the PANK2 gene likely result in the production of an abnormal version of pantothenate kinase 2 or prevent cells from making any of this enzyme. [ghr.nlm.nih.gov]

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