Although the disorder is typically referred to as hereditary spastic paraplegia the degree of weakness is variable and ranges from no weakness (full strength) to marked weakness (paraplegia). [rarediseases.org]

Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. [genecards.org]

2005, Vol.11, No.3 doi: 10.1212/01.CON.0000293721.86238.6a Article Article Related Links Abstract Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of motor disorders characterized by bilateral leg spasticity and weakness [journals.lww.com]

Hereditary spastic paraplegia 2017 Billable/Specific Code Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by varying degrees of lower limb spasticity, pyramidal weakness [medicbind.com]

University of Iowa · Peripheral and Autonomic Nervous System Disorders and Pain-Nicholas Maragakis, Johns Hopkins University · Neoplastic and Paraneoplastic Diseases-Lisa DeAngelis, Memorial Sloan-Kettering Cancer Center · Infectious Diseases of the [books.google.com]

Complex spastic paraplegias also affect the structure or functioning of the brain and the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, [ghr.nlm.nih.gov]

The consequences of abnormal walking pattern cause strain on the ankles, knees, hips, and back and often cause pain in these areas. [rarediseases.org]

She first noticed gait disturbance and spasticity in the lower extremities together with nocturnal leg cramps and pain attacks in the upper limbs at age of 28 years. [omicsonline.org]

She has always had a great interest in movement disorders with focus on movement disorder genetics and electrophysiology. She holds a Ph.D. degree in neurosciences from University College London. [books.google.com]

Costeff H, Gadoth N and Apter N (1989) A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology 39: 595–597. [els.net]

[…] mutations are frequent in young-onset autosomal dominant spastic paraplegia Arch Neurol, 61 (12), 1867-72 DOI 10.1001/archneur.61.12.1867, PubMed 15596607 Tallaksen CM, Dietrichs E (2004) [The genetics of movement disorders--spinocerebellar degenerations [ous-research.no]

Movement Disorders. 2008;23(2):228-33. de Niet M, de Bot ST, van de Warrenburg BP, Weerdesteyn V, Geurts AC. [en.wikipedia.org]

In the current study, we report a consanguineous Turkish family with ARHSP inheritance manifesting white matter abnormalities including TCC with relatively late age of onset. [omicsonline.org]

Homozygosity mapping in two large consanguineous families of Turkish and Norwegian origin mapped the disease gene on chromosome 5q31[ 45 ]. [wjgnet.com]

ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree. [ncbi.nlm.nih.gov]

She first noticed gait disturbance and spasticity in the lower extremities together with nocturnal leg cramps and pain attacks in the upper limbs at age of 28 years. [omicsonline.org]

Tidsskr Nor Laegeforen, 119 (12), 1744-9 PubMed 10380589 Tallaksen CM, Bovim G (1998) [Thiamine treatment today] Tidsskr Nor Laegeforen, 118 (25), 3946-9 PubMed 9830340 Tallaksen CM, Kerty E, Bakke S (1998) Visual hallucinations in a case of reversible hypertension-induced [ous-research.no]

[…] due to VCP mutation Cerebellar ataxia, Cayman type Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Spastic paraplegia - Paget disease of bone Congenital bilateral absence of vas deferens Cystic fibrosis Hereditary chronic [csbg.cnb.csic.es]

2, Autosomal Recessive via BIN1 Gene Sequencing with CNV Detection Sequencing with CNV PGxome 890 Centronuclear Myopathy-3, Autosomal Dominant via MYF6 Gene Sequencing with CNV Detection Sanger Sequencing 540 Sequencing with CNV PGxome 890 Centronuclear [preventiongenetics.com]

[…] dementia and/or amyotrophic lateral sclerosis 3 Frontotemporal lobar degeneration with ubiquitin-positive inclusions Goiter familial due to TTF1 defect Hereditary benign chorea Hereditary motor and sensory neuropathy type IIc - HMSN2C Inclusion body myopathy [agdx.portal.cartagenia.com]

STUB1 (615768) 8 months–49 y Cerebellar ataxia, UMN, intellectual deficiencies, hypogonadism – STUB1 (607207) CHIP Salih ataxia (615705) Epilepsy, mental retardation – KIAA0226 (613516) Rundataxin MSS (248800) Since birth Bilateral congenital cataract, myopathy [neupsykey.com]

Marinesco-Sjögren syndrome is invariably associated with the combination of a cerebellar syndrome, chronic myopathy, and cataracts after age seven years [ Krieger et al 2013 ]; myopathy and cataracts have not been reported in PNPLA6 -related disorders [ncbi.nlm.nih.gov]

She first noticed gait disturbance and spasticity in the lower extremities together with nocturnal leg cramps and pain attacks in the upper limbs at age of 28 years. [omicsonline.org]

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med. [books.google.com]

With exception of few missense mutations all mutations cause a premature truncation of the protein suggesting “loss of function” as the likely pathogenic mechanism. [omicsonline.org]

A study by Agosta et al suggested that the various neurologic disorders designated as HSP share a common neurodegenerative cascade. [emedicine.medscape.com]

The proband, a 50 year old male (III.6), reported that he had 23 male relatives affected by the same condition, which suggested X linked recessive inheritance. [jmg.bmj.com]

Nevertheless, in all our patients, there was a relationship between the location and severity of white matter changes and the atrophy of the corpus callosum, suggestive of an atrophic process of the corpus callosum. [ajnr.org]

Metabolic ataxias: The subgroup of metabolic ataxias includes disorders characterized by progressive ataxia, recurrent ataxia and ataxia as a minor feature. [wjgnet.com]

Ataxia without neuropathy ( Pure cerebellar ataxia, possibly associated with other symptoms ) ARCA1 (610743) Late onset: 32 y (17–46 y) Pure cerebellar ataxia, late onset, tendon reflexes – SYNE1 (608441) SYNE1 ARCA2 (612016) 4 y (1–11 y) Epilepsy, myoclonus [neupsykey.com]

Some of these features can occur in distinct clusters on the phenotypic continuum: Boucher-Neuhäuser syndrome (cerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism); Gordon Holmes syndrome (cerebellar ataxia, hypogonadotropic [ncbi.nlm.nih.gov]

[…] spastic ataxia of Charlevoix-Saguenay Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) Autosomal recessive spastic paraplegia type 11 Autosomal recessive spastic paraplegia type 11 (disorder) Autosomal recessive spastic paraplegia [medicbind.com]

Common but less frequent features are peripheral neuropathy (usually of axonal type manifesting as reduced distal reflexes, diminished vibratory sensation, and/or distal muscle wasting), hair anomalies (long eyelashes, bushy eyebrows, or scalp alopecia [ncbi.nlm.nih.gov]

Clinically, HSPs can be divided into two main groups: uncomplicated (pure) and complicated (complex) forms depending on the presence of other neurological features including ataxia, peripheral neuropathy, cognitive impairment, epilepsy, amyotrophy, retinopathy [medicbind.com]

CMT2X patients manifest a slowly progressive, peripheral neuropathy affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Some patients also have upper limb involvement. {ECO:0000269 PubMed:26556829}. [genecards.org]

Five patients (2 from family I, 2 from family II, and 1 from family IV) had a peripheral neuropathy diagnosed by neurography and electromyography consisting of axonal motor neuropathy. [ajnr.org]

She has received many awards, among others the European Dystonia Society David Marsden Award and the AAN Jon Stolk Award in Movement Disorders for Young Investigators. [books.google.com]

1 torsion - DYT1 Dystonia 11 myoclonic - DYT11 Dystonia 6 torsion - DYT6 Dystonia-parkinsonism, rapid-onset - DYT12 Dystonia-Parkinsonism, X-linked - DYT3 Epileptic encephalopathy early infantile 2 - Rett syndrome atypical Familial Amyloid Polyneuropathy [agdx.portal.cartagenia.com]

cognitive deficits Leucocytes and/or fibroblasts: Chitotriosidase Oxysterol Skin biopsy: Filipin test NPC1/NPC2 (607623/601015) NPC1/NPC2 Wilson disease (277900) 5–35 y Hepatopathy, dystonia, tremor, parkinsonism, Kayser–Fleischer rings, hemolytic anemia [neupsykey.com]

Both patients had complicated HSP with activity-induced dystonia, suggesting dystonia as an additional finding in SPG56. [hspersunite.org.au]

2003 ) 15q21–q22 Maspardin Complex 20–40 Yes Yes Extrapyramidal syndrome, dementia, thin CC, periventricular white matter hyperintensities, cataract, dystonia, chorea, hand muscle atrophy SPG23 ( Blumen et al ., 2003 ) 1q24–q32 – Complex Early childhood [academic.oup.com]

People with spastic paraplegia type 31 can also experience progressive muscle wasting (amyotrophy) in the lower limbs, exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet ( pes cavus [ghr.nlm.nih.gov]

[…] spastic paraplegia 2017 Billable/Specific Code Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by varying degrees of lower limb spasticity, pyramidal weakness, hyperreflexia [medicbind.com]

Hyperreflexia of the lower as well as the upper limbs was also observed. Brain MRI findings were similar to that of patient II3. [omicsonline.org]

Neurological examination disclosed mild spasticity and weakness in the legs, hyperreflexia in all limbs, and bilateral Babinski sign. [bmcmedgenet.biomedcentral.com]

Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign. [journals.plos.org]

Detailed neurological examination showed predominantly bilateral proximal pronounced paresis (3/4) of the lower limbs with hyperreflexia and positive bilateral Babinski sign. He also complains about urinary urgency. [omicsonline.org]

In pure forms, clinical features consist of isolated pyramidal signs, such as brisk reflexes, Babinski sign, spasticity and motor deficit, which can be associated with sphincter disturbances and deep sensory loss. [academic.oup.com]